Myopathy, Myofibrillar, 4 |
|
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, Elevated ci... |
OMIM:609452 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Progressive distal muscle weakness, Autophagi... |
ORPHA:399058 |
Myopathy, Myofibrillar, 3 |
|
Proximal muscle weakness, Progressive distal muscle weakness, Elevated circulating creatine kinas... |
OMIM:609200 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... |
ORPHA:98912 |
Distal Myopathy With Anterior Tibial Onset |
|
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Tibia... |
ORPHA:178400 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Distal Myotilinopathy |
|
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, Elevated circulating creatine... |
ORPHA:98911 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase... |
OMIM:300695 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion d... |
OMIM:310300 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Myopathy, Distal, 4 |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardio... |
OMIM:614065 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Fatigable weakness of bulbar muscles, Neck flexor weaknes... |
ORPHA:98909 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy, Musc... |
OMIM:617030 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly ele... |
ORPHA:603 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Elevated ... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Proximal muscle weakness, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal mu... |
OMIM:618655 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Elevated circulating cre... |
OMIM:609115 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... |
ORPHA:611 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Rimmed vacuoles... |
OMIM:605820 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, External ophthalmoplegia, Elevated circulating creatine kinase co... |
OMIM:618940 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase ... |
OMIM:609500 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... |
ORPHA:178464 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Progr... |
ORPHA:488650 |
Distal Anoctaminopathy |
|
Highly elevated creatine kinase, Progressive muscle weakness, Proximal muscle weakness in upper l... |
ORPHA:399096 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... |
ORPHA:399086 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... |
OMIM:616852 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Highly elevated creatine kinas... |
OMIM:618848 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Proximal muscle weakness, Myopathy, Mildly elevated creatine kinase, Rimmed vacuoles, Limb-girdle... |
OMIM:615424 |
Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Torticoll... |
OMIM:158810 |
Scapuloperoneal Myopathy, Myh7-Related |
|
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature |
OMIM:181430 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Neck flexor weakness, Limb muscle weakness |
OMIM:609273 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Proximal muscle weakness, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakne... |
OMIM:616812 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... |
OMIM:609456 |
Myopathy, Myofibrillar, 5 |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Muscle fiber cytopl... |
OMIM:609524 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Gowers sign, Myopathy, Proximal muscle weakness, Elevated circulating cre... |
OMIM:612937 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... |
ORPHA:98902 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... |
OMIM:605355 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentrat... |
OMIM:608810 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Elevated circulatin... |
ORPHA:266 |
Nemaline Myopathy 7 |
|
Gowers sign, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficiency due to muscle we... |
OMIM:610687 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulating creatine k... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Cardiomyopathy,... |
OMIM:608099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase con... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffi... |
OMIM:300717 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... |
OMIM:618654 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration, Myopathy, Distal muscle weakness, Distal amyo... |
OMIM:606768 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Elevated circulating cre... |
OMIM:601954 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine |
OMIM:212160 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congenital... |
OMIM:613204 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Elevated circulating cre... |
OMIM:500002 |
Myopathy, Spheroid Body |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... |
OMIM:182920 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Zebra Body Myopathy |
|
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Elevated circulating cre... |
ORPHA:97240 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Gowers sign, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Elevat... |
ORPHA:254361 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Duchenne Muscular Dystrophy |
|
Proximal muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kinase concentra... |
ORPHA:98896 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration, Supravent... |
OMIM:255100 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... |
ORPHA:663 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, EMG: myopathic abno... |
OMIM:253601 |
Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... |
OMIM:611705 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Proximal muscle weakness, Elevated circulating creatine kinase conce... |
OMIM:300696 |
Bethlem Myopathy 2 |
|
Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration, Muscle we... |
OMIM:616471 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Neck flexor weakness, Respirato... |
ORPHA:171442 |
Rigid Spine Syndrome |
|
Poor head control, Myopathy, Gowers sign, Skeletal muscle atrophy, Hip contracture, Cardiac condu... |
ORPHA:97244 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressi... |
ORPHA:480 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Elevated circulating creatine kinase concentration, Progressive muscle weakness, Ragged-red muscl... |
OMIM:619024 |
Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... |
ORPHA:2593 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98855 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... |
OMIM:605637 |
Welander Distal Myopathy |
|
Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Elevated circulating creati... |
ORPHA:270 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Proximal muscle weakness, Myopathy |
OMIM:255140 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... |
ORPHA:1878 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... |
OMIM:603689 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Weakness of the in... |
ORPHA:399081 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Muscle weakness, Increased variability in muscle fiber diameter, Distal amyotrop... |
OMIM:619042 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Myopathy, Ragged-red muscle fibers, Increased serum pyruvate |
OMIM:545000 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibe... |
OMIM:160500 |
Neutral Lipid Storage Disease With Myopathy |
|
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Elevated circula... |
OMIM:610717 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... |
ORPHA:34516 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentrat... |
OMIM:300718 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Gowers sign, Myopathy, Elevated circulating creatine kinase concentration... |
OMIM:602541 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Proximal muscle weakness, Myopathy, Minicore myopathy, Respiratory insufficiency due to muscle we... |
ORPHA:424107 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... |
OMIM:160565 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Static ophthalmoparesis, Limb muscle weakness |
OMIM:257600 |
Glycogen Storage Disease Xiii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content |
OMIM:612932 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... |
OMIM:608358 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy,... |
OMIM:300580 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Limb mu... |
OMIM:609286 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Atrioventricular block, Left bundle branch block,... |
OMIM:115197 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Muscle weakness, Myopathy |
OMIM:616314 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Elevated cir... |
OMIM:616924 |
Nemaline Myopathy 2 |
|
Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudohypertrophy, Pr... |
OMIM:256030 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... |
ORPHA:353 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Weakness of long finger extensor muscles, Progressive distal muscle ... |
ORPHA:641 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration, Myopathy |
ORPHA:88635 |
Nemaline Myopathy 1 |
|
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... |
OMIM:609284 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Elevated circulating creatine kinase con... |
OMIM:611307 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... |
OMIM:619477 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Elevated circulating creatine ... |
ORPHA:86812 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... |
OMIM:609283 |
Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Elevated circula... |
OMIM:255160 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
OMIM:608423 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Myofibrillar Myopathy 11 |
|
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... |
OMIM:619178 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... |
ORPHA:457050 |
Oculopharyngodistal Myopathy |
|
Fatigable weakness of bulbar muscles, Progressive external ophthalmoplegia, Weakness of facial mu... |
ORPHA:98897 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... |
ORPHA:353327 |
Myopathy, Distal, 3 |
|
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... |
OMIM:610099 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Muscle we... |
OMIM:300376 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation, Left ventricular hypertrophy |
OMIM:108900 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... |
OMIM:619216 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concen... |
ORPHA:119 |
Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Fatiguable weakness of proximal l... |
ORPHA:206569 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Peroneal muscle atrophy, Distal amyotrophy, Atrioventricular block, Abnormal atrioventricular con... |
OMIM:118230 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... |
ORPHA:171439 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Achalasia, Skeletal muscle atrophy, Progressive muscle weakness |
OMIM:252320 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... |
OMIM:603034 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block |
OMIM:613158 |
Pleoconial Myopathy With Salt Craving |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy |
OMIM:262900 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Proximal muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kinase concentra... |
OMIM:608807 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Muscle weakness, Increased intramyocellular lipid droplets, Increased serum pyruvate, Weakness of... |
OMIM:619062 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Muscle weakness, Myopathy, Episodic flaccid weakness, Hypokalemia |
OMIM:170400 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating creatine kinase concentration, Myopathy |
OMIM:607091 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... |
ORPHA:276435 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Highly elevated creatine kinase, Myopathy, Increased ... |
OMIM:618992 |
Autosomal Recessive Centronuclear Myopathy |
|
Gowers sign, Hip contracture, Facial diplegia, Progressive muscle weakness, Generalized amyotroph... |
ORPHA:169186 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, ... |
OMIM:615422 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... |
OMIM:618138 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Elevated circulating creatine kinase concen... |
OMIM:612954 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Elevated... |
OMIM:167320 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, E... |
ORPHA:57 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Progressive muscle weakness, Rimmed vacuoles,... |
OMIM:619518 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Weakness of facial muscu... |
ORPHA:254875 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Abnormal circulat... |
ORPHA:597 |
Vacuolar Neuromyopathy |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Shoulder girdle muscle ... |
OMIM:601846 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Poor head control, Myopathy, Skeletal muscle atrophy, Congestive heart failure, Flexion contractu... |
ORPHA:157973 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Deposits immunoreactive t... |
OMIM:254130 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy... |
OMIM:617072 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... |
OMIM:615348 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Neck flexor weakness, Palpitations, Ventricular tachycardia, EMG: myopathi... |
ORPHA:263297 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy, Hyperalaninemia |
ORPHA:2597 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, F... |
OMIM:603511 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Progressiv... |
OMIM:248800 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Mildly elevated... |
ORPHA:254864 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Myopathy, Generalized muscle weakness |
OMIM:616321 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated c... |
ORPHA:368 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... |
OMIM:605809 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Poor head control, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
ORPHA:300179 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Myopathy, Facial palsy |
OMIM:253320 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Res... |
OMIM:161800 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Progressive muscle weakness, Respiratory insufficiency due to muscle... |
OMIM:613561 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... |
OMIM:540000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Elevated circ... |
OMIM:212138 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase ... |
ORPHA:263494 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Diaphragmatic weakness, Elevated circulating creat... |
ORPHA:75840 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalit... |
ORPHA:397744 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... |
OMIM:160150 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gowers sign, Myopathy, Progressive external ophthalmoplegia, Elevated creatine kinase after exerc... |
ORPHA:352470 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia |
ORPHA:366 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Progressive external ophthalmoplegia, External ophthalmoplegia, Facial palsy, Cardiomyo... |
OMIM:201470 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Generalized muscle weakness, Skeletal muscle atrophy, Increased variabi... |
ORPHA:238329 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Proximal muscle weakness, Pelvic girdle muscle weakness, Elevated circula... |
ORPHA:34515 |
Amyotrophic Lateral Sclerosis 8 |
|
Proximal muscle weakness, Distal muscle weakness, Skeletal muscle atrophy, Progressive muscle wea... |
OMIM:608627 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... |
OMIM:618823 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdle mus... |
OMIM:613530 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Episodic flaccid weakness, Hypokalemia |
OMIM:613345 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... |
OMIM:255320 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Proximal muscle weakness, Myopathy |
OMIM:551500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Mitral ... |
OMIM:258450 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Dilated cardiomyopathy, Proximal muscle weakness, Limb joint contracture, Respiratory insufficien... |
OMIM:255310 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Elevated ... |
OMIM:613954 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy |
ORPHA:85447 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle atrophy, Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricul... |
OMIM:118301 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Progressive muscle weakness, Ragged-red muscle fibers, Elevated circ... |
OMIM:607426 |
Infantile Refsum Disease |
|
Progressive muscle weakness, Facial palsy, Cardiomyopathy, Elevated levels of phytanic acid, Arrh... |
ORPHA:772 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:206546 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... |
ORPHA:486815 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture |
OMIM:616313 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Elevated circulating creatine kinase concentration, E... |
OMIM:123320 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, External opht... |
ORPHA:254886 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Generalize... |
OMIM:602771 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Limb mus... |
OMIM:157640 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Palpitations, Elevated circulating creatine kinase concentration, Increased intramyocel... |
OMIM:255125 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia,... |
ORPHA:352447 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Elevated... |
OMIM:310440 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Limb muscle weakness, Elevated circulating creatine kinase ... |
OMIM:610131 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Cap Myopathy |
|
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... |
ORPHA:171881 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Glycogen Storage Disease Iii |
|
Myopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Mus... |
OMIM:232400 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Mildly elevated creatine kinase, Flexi... |
OMIM:616228 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Elevated circulatin... |
OMIM:609560 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Increased QRS volt... |
OMIM:619040 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Myopathy, Abnormal circulating creatine kinase concentration, Muscle fi... |
ORPHA:369840 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Calf muscle hypertrophy, Dist... |
OMIM:617760 |
Neutral Lipid Storage Myopathy |
|
Gowers sign, Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness... |
ORPHA:98908 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... |
OMIM:616816 |
Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Progressive external ophthalmopleg... |
OMIM:530000 |
Triosephosphate Isomerase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Progressive muscle weakness, Respiratory insufficiency due to ... |
OMIM:615512 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Muscle weakness, Myopathy |
OMIM:212350 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Abnormal muscle fiber morphology, Prolonged QT interval, Episodic hypokalemia, Palp... |
ORPHA:79102 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Muscle weakness, Ragged-red muscle fibers, Congestive heart failure, Increased serum pyruvate |
OMIM:616794 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Myopathy, Congenital, With Tremor |
|
Proximal muscle weakness, EMG: myopathic abnormalities, Flexion contracture, Scapular winging, Ax... |
OMIM:618524 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Elevated circulating creatine kinase concentration, Hypoglycosylation of alpha-dyst... |
OMIM:616052 |
Myopathy, Centronuclear, 2 |
|
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... |
OMIM:255200 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:607855 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Gowers sign, Elevated circulating creatine kinase concentration, Hypog... |
OMIM:613818 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis,... |
OMIM:154275 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Progressive muscle weakness, Generalized limb muscle atrophy, Increased circulating ferritin conc... |
OMIM:600462 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external... |
OMIM:617070 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne... |
OMIM:300816 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:615511 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Generalized amyotro... |
ORPHA:52430 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Neck flexor we... |
ORPHA:98913 |
Myotonic Dystrophy 1 |
|
Atrial fibrillation, Facial diplegia, Muscle weakness, Atrial flutter, First degree atrioventricu... |
OMIM:160900 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogryposis multiple... |
OMIM:301830 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Proximal muscle weakness, Mildly elevated creatine kinase,... |
ORPHA:401768 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... |
ORPHA:262 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Myopathy, Hyperammonemia, Reduced muscle carnitine level, Muscle wea... |
OMIM:212140 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis,... |
OMIM:154276 |
Typical Nemaline Myopathy |
|
Fatiguable weakness of proximal limb muscles, Myopathy, Neck flexor weakness, Facial diplegia, El... |
ORPHA:171436 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Hypok... |
ORPHA:682 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Myopathy |
ORPHA:408 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Progressive muscle w... |
ORPHA:370 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Weakness of ... |
ORPHA:329336 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Proximal muscle weakness, Extremely elevated creatine kinase, EMG: myopathic abnormalities, Dista... |
ORPHA:99939 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... |
OMIM:615418 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Elevated circulating creatine kinase conce... |
OMIM:300842 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Right ven... |
ORPHA:1329 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Cardiomyopathy, Elevated circulating acylcarnitine concentration |
ORPHA:26792 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Ventricular tachycardia, Atrioven... |
ORPHA:26793 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia |
OMIM:614407 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Proximal muscle weakness, Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal... |
ORPHA:98905 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Elevated circulating creatine kinase concentration, Myopathy |
OMIM:254960 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618236 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
Heart-Hand Syndrome Type 3 |
|
Sick sinus syndrome, Bundle branch block |
ORPHA:1342 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, Macroglossia, Elevated circulating creatin... |
OMIM:608840 |
Heart Block, Congenital |
|
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... |
OMIM:234700 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... |
ORPHA:1677 |
Hypophosphatasia, Childhood |
|
Myopathy, Elevated plasma pyrophosphate |
OMIM:241510 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Progressive muscle weakness, Arrhythmia, Congestive heart failure |
ORPHA:91131 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Episodic hypokalemia, Late-onset proximal muscle weakness, Incr... |
ORPHA:681 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Telangiectasia, Progressive muscle weakness, Conjunctival telangiectasia, Muscle weakness, Flexio... |
OMIM:615919 |
Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentratio... |
OMIM:617713 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... |
ORPHA:596 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Decreased plasma free carnitine, Elevated circulating creatine kinase concentration, Ca... |
ORPHA:228305 |
Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, P... |
ORPHA:2020 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Abnormal circulating creatine kinase concentration, Increased intramyocellular lipid dr... |
ORPHA:98907 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... |
ORPHA:398124 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Macroglossia, Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR inter... |
OMIM:261740 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis |
OMIM:261670 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Tendon rupture, Reduced ejection fraction, Angina pectoris, Restrict... |
ORPHA:85451 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... |
ORPHA:178148 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Proximal muscle weakness, Reduced muscle collagen VI, Torticollis, Respiratory insufficiency due ... |
OMIM:254090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Proximal muscle weakness, Macroglossia, Elevated circulating creatine kinase... |
OMIM:606612 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia, Hypocalcemia |
ORPHA:2238 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... |
ORPHA:272 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Gene... |
ORPHA:99901 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Elevated circ... |
ORPHA:42 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Proximal muscle weakness, Elevated circulati... |
OMIM:300257 |
Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal muscle weakness, External ophthalmo... |
OMIM:164310 |
Lyme Disease |
|
Atrioventricular block, Arrhythmia, Muscle weakness |
ORPHA:91546 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Left ventricular hypertrophy, Cardi... |
OMIM:163800 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopath... |
OMIM:619424 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Proximal muscle weakness, Poor head control, Skeletal muscle atrophy... |
ORPHA:3208 |
Synaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... |
ORPHA:98915 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content |
OMIM:611556 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Myopathy |
OMIM:109130 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Generalized muscle weakness, Co... |
OMIM:601170 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness, Increased variabili... |
OMIM:616867 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Progressive muscle w... |
ORPHA:264580 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, External ophthalmoplegia, Elevated... |
OMIM:616479 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Classic Multiminicore Myopathy |
|
Right ventricular failure, Poor head control, Increased muscle lipid content, Weakness of facial ... |
ORPHA:324604 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Generalized muscle weakness, Transient ischemic attack, Vasculitis, Shortened PR interval, Lower ... |
ORPHA:365 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture |
OMIM:616549 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Generalized... |
OMIM:609015 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Progressive proximal muscle weakness, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... |
ORPHA:79083 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
ORPHA:79240 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Myopathy, Flexion contracture |
OMIM:618237 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... |
ORPHA:358 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ... |
OMIM:607459 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Mitral regurgitatio... |
OMIM:617258 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Myopathy, Progressive external ophthalmoplegia, Limb-girdle muscle weakness |
ORPHA:1215 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Proximal m... |
ORPHA:732 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy |
OMIM:618242 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Gowers sign, Skeletal muscle atrophy, Right ventricular hypertrophy, Elevated circulating creatin... |
OMIM:253700 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Prog... |
ORPHA:1349 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... |
ORPHA:2348 |
Mitochondrial Trifunctional Protein Deficiency |
|
Mitral regurgitation, Skeletal myopathy, Progressive distal muscle weakness, Cardiomyopathy, Tric... |
ORPHA:746 |
Holt-Oram Syndrome |
|
First degree atrioventricular block, Atrioventricular block, Paroxysmal atrial fibrillation |
ORPHA:392 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Muscle fiber atrophy,... |
OMIM:616866 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Muscle weakness, Skeletal muscle atrophy, Hyperuricemia, Increased muscle glycogen content |
ORPHA:371 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Congestive heart failure,... |
OMIM:302060 |
Scleromyxedema |
|
Proximal muscle weakness, Myopathy, Abnormal skeletal muscle morphology, Elevated circulating cre... |
ORPHA:167635 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Respiratory insufficiency due to muscl... |
OMIM:619461 |
Immunodeficiency 9 |
|
Gowers sign, Myopathy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness |
OMIM:612782 |
Carcinoid Syndrome |
|
Right ventricular failure, Facial telangiectasia, Myopathy, Palpitations, Abnormal B-type natriur... |
ORPHA:100093 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Atrial fibrillati... |
ORPHA:273 |
King-Denborough Syndrome |
|
Proximal muscle weakness, Minicore myopathy, Weakness of facial musculature, Elevated circulating... |
OMIM:619542 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy, Ophthalmoparesis, Fatigable weakness, Ophthalmoplegia, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Arts Syndrome |
|
Progressive muscle weakness |
OMIM:301835 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal muscle glycogen content, Cong... |
ORPHA:367 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Atrioventricular Septal Defect 3 |
|
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... |
OMIM:600309 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Muscle weakness, Myopathy |
ORPHA:166002 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase... |
OMIM:616239 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Gowers sign, Elevated circulating creatine kinase concentration, Cardiomy... |
OMIM:310200 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Respiratory insufficiency due to ... |
OMIM:617066 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis, Hyperbilirubinemia |
ORPHA:713 |
Stormorken Syndrome |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Myopathy, Epistaxis |
OMIM:185070 |
Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Viral infection-induced rhabdom... |
ORPHA:99845 |
Refsum Disease |
|
Skeletal muscle atrophy, Cardiomyopathy, Heart block |
ORPHA:773 |
Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy, Hypertriglyceridemia |
OMIM:307030 |
Histiocytoid Cardiomyopathy |
|
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... |
ORPHA:137675 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... |
ORPHA:169189 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Skeletal muscle hypertrophy, Hyperlipidemia, Cardiomyopathy, Congestive h... |
ORPHA:90970 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Gowers sign, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Progre... |
OMIM:181405 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Abnorma... |
ORPHA:559 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
Carey-Fineman-Ziter Syndrome |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial pal... |
OMIM:254940 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diameter |
OMIM:619334 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Intracranial hemorrhage, Hypokalemia, Epistaxis, Pulmonary arterial hypertension, S... |
ORPHA:369929 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Skeletal myopathy, Hyperlipidemia, Palpitations, Elevated circula... |
ORPHA:565612 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Macroglossia, Progressive muscle weakness, Abnormal circulating lipid co... |
ORPHA:488632 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Hyperlipidemia, Abnormal circula... |
ORPHA:324 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Myopathy, Hypertriglyceridemia |
ORPHA:363400 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Respiratory insuffic... |
ORPHA:600 |
Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Premature ventricular contraction, Hyperkalemia, Ventricular tachycardia, S... |
ORPHA:423 |
Adrenomyodystrophy |
|
Myopathy |
OMIM:300270 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak |
ORPHA:542323 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Neck flexor weakness, Right v... |
ORPHA:268 |
Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
Cystinosis |
|
Myopathy, Hypokalemia, Hypophosphatemia, Muscle weakness, Portal hypertension |
ORPHA:213 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Gowers sign, Proximal muscle weakness, Weakness of facial musculature, Increased intramyocellular... |
ORPHA:502423 |
Myotonic Dystrophy 2 |
|
Proximal muscle weakness, Type 2 muscle fiber atrophy, Neck flexor weakness, Palpitations, Elevat... |
OMIM:602668 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase c... |
ORPHA:157 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Glycogen Storage Disease Ii |
|
Firm muscles, Proximal muscle weakness, Diaphragmatic paralysis, Macroglossia, Elevated circulati... |
OMIM:232300 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Proximal muscle weakness, Ragged-red muscle fibers, Ophthalmoparesis, Inc... |
ORPHA:70595 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral is... |
ORPHA:449285 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, Ventricula... |
ORPHA:254892 |
Chanarin-Dorfman Syndrome |
|
Muscle weakness, Myopathy |
OMIM:275630 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Increased muscle lipid content, Elevated circulating long chain fatty acid concentration, Elevate... |
ORPHA:228302 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Progressive external ophthalmoplegia |
OMIM:613077 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Hypertension |
ORPHA:371428 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Muscle weakness, EMG: myopathic abnormalities, Ophthalmoplegia |
ORPHA:457365 |
Xanthinuria, Type I |
|
Myopathy, Hyperxanthinemia |
OMIM:278300 |
Paramyotonia Congenita Of Von Eulenburg |
|
Abnormal blood potassium concentration, Cold paresis, EMG: myopathic abnormalities, Facial muscle... |
ORPHA:684 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Limb muscle weakness, Limb-girdle mu... |
OMIM:112250 |
Acquired Generalized Lipodystrophy |
|
Hypertension, Myopathy, Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardio... |
ORPHA:79086 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claud... |
OMIM:259900 |
Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy, External ophthalmoplegia |
ORPHA:1876 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Myopathy, Muscle hypertrophy of the lower extremities, Decreased HDL... |
ORPHA:280365 |
Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Myopathy |
ORPHA:588 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Tricuspid regurgitation, Abnormal atrioventricu... |
ORPHA:439 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... |
ORPHA:99104 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:606070 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Proximal muscle weakness, Macroglossia, Elevated circulating creatin... |
ORPHA:308552 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, EMG: myopathic abnormalities |
ORPHA:97355 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:85329 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Arrhythmia |
ORPHA:93317 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Myopathy, Skeletal muscle atrophy, Weakness of facial musculature, Ophthalmoplegia, Scapular winging |
ORPHA:98673 |
Congenital Myasthenic Syndrome |
|
Proximal muscle weakness, Poor head control, Arthrogryposis multiplex congenita, EMG: myopathic a... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Poor head control, Arthrogryposis multiplex congenita, EMG: myopathic a... |
ORPHA:98914 |
Scleroderma |
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Right ventricular failure, Syncope, Myopathy, Myocarditis, Pericarditis, Elevated circulating cre... |
ORPHA:801 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
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Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Lethal Congenital Contracture Syndrome 5 |
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Elevated circulating creatine kinase concentration, Congenital contracture, Flexion contracture, ... |
OMIM:615368 |
Atrial Septal Defect 1 |
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Aortic valve stenosis, Second degree atrioventricular block |
OMIM:108800 |
Immunodeficiency 10 |
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Myopathy |
OMIM:612783 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Myopathy, Cardiomyopathy |
OMIM:614922 |
Native American Myopathy |
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Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... |
ORPHA:168572 |
Overlap Myositis |
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Hypertension, Perifascicular muscle fiber atrophy, Proximal muscle weakness, Elevated circulating... |
ORPHA:206572 |
Melas |
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Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... |
ORPHA:550 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Mucopolysaccharidosis Type 3 |
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Reduced ejection fraction, Macroglossia, Atrioventricular block, Flexion contracture, Fatigable w... |
ORPHA:581 |
Myopathy, Mitochondrial, And Ataxia |
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Elevated circulating creatine kinase concentration, Muscle weakness, Increased variability in mus... |
OMIM:617675 |
Carey-Fineman-Ziter Syndrome |
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Myopathy, Skeletal muscle atrophy, Hypertensive crisis, Facial palsy, Aplasia of the pectoralis m... |
ORPHA:1358 |
Leptospirosis |
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Hyperproteinemia, Pericarditis, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree at... |
ORPHA:509 |
Leopard Syndrome 1 |
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Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch block, Pulmonic s... |
OMIM:151100 |
Adrenomyodystrophy |
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Myopathy |
ORPHA:977 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hypertension, Myopathy, Decreased HDL cholesterol concentration, Elevated circulating creatinine ... |
ORPHA:85450 |
Ebstein Malformation Of The Tricuspid Valve |
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