Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dystrophia myotonica-protein kinase
Synonyms:
Dm15,  DM

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dmpk mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dmpk by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myotonic Dystrophy 1
Atrial fibrillation, Facial diplegia, Muscle weakness, Atrial flutter, First degree atrioventricu... OMIM:160900

The table below shows human diseases predicted to be associated to Dmpk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Right ventricular failure, Syncope, Myopathy, Myocarditis, Pericarditis, Elevated circulating cre... ORPHA:801
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Congenital contracture, Flexion contracture, ... OMIM:615368
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Immunodeficiency 10
Myopathy OMIM:612783
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cardiomyopathy OMIM:614922
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... ORPHA:168572
Overlap Myositis
Hypertension, Perifascicular muscle fiber atrophy, Proximal muscle weakness, Elevated circulating... ORPHA:206572
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... ORPHA:550
Chylomicron Retention Disease
Hypocholesterolemia, Myopathy, EMG: myopathic abnormalities ORPHA:71
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Macroglossia, Atrioventricular block, Flexion contracture, Fatigable w... ORPHA:581
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Muscle weakness, Increased variability in mus... OMIM:617675
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Hypertensive crisis, Facial palsy, Aplasia of the pectoralis m... ORPHA:1358
Leptospirosis
Hyperproteinemia, Pericarditis, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree at... ORPHA:509
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch block, Pulmonic s... OMIM:151100
Adrenomyodystrophy
Myopathy ORPHA:977
Hereditary Amyloidosis With Primary Renal Involvement
Hypertension, Myopathy, Decreased HDL cholesterol concentration, Elevated circulating creatinine ... ORPHA:85450
Ebstein Malformation Of The Tricuspid Valve