Paramyotonia Congenita Of Von Eulenburg |
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Myotonia of the upper limb, Cold-sensitive myotonia, Abnormal blood potassium concentration, Para... |
ORPHA:684 |
Myotonia Congenita, Autosomal Dominant |
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Myotonia, Percussion myotonia, EMG: myotonic runs, Handgrip myotonia, Myotonia with warm-up pheno... |
OMIM:160800 |
Rippling Muscle Disease 2 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding, Elevated circulating creat... |
OMIM:606072 |
Rippling Muscle Disease 1 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Myotonia Congenita, Autosomal Recessive |
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EMG: myotonic runs, Myotonia with warm-up phenomenon, Percussion myotonia, Myotonia |
OMIM:255700 |
Paramyotonia Congenita Of Von Eulenburg |
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Handgrip myotonia, Paradoxical myotonia, Percussion myotonia |
OMIM:168300 |
Thomsen And Becker Disease |
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Myotonia |
ORPHA:614 |
Distal Myopathy, Tateyama Type |
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Palpitations, Percussion-induced rapid rolling muscle contractions, Abnormal circulating creatine... |
ORPHA:488650 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Hyperkalemic Periodic Paralysis |
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Hyperkalemia, Myotonia |
OMIM:170500 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
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Elevated circulating creatine kinase concentration, Myotonia |
OMIM:137200 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
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Myotonia |
OMIM:254950 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level, Myotonia, Elevated circulating ... |
OMIM:602668 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Hyperuricemia, Myotonia |
ORPHA:371 |
Myotonia, Potassium-Aggravated |
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Elevated circulating creatine kinase concentration, Myotonia |
OMIM:608390 |
Brody Disease |
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Percussion myotonia, Myotonia |
OMIM:601003 |
Normokalemic Periodic Paralysis |
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Myotonia |
OMIM:170600 |
Myofibrillar Myopathy 10 |
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Increased QRS voltage, Percussion myotonia, Prolonged QTc interval, Elevated circulating creatine... |
OMIM:619040 |
Muscular Dystrophy, Barnes Type |
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Myotonia |
OMIM:158800 |
Myopathy, X-Linked, With Excessive Autophagy |
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Elevated circulating creatine kinase concentration, Myotonia |
OMIM:310440 |
Myotonia Fluctuans |
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Myotonia of the upper limb, Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, ... |
ORPHA:99734 |
Hyperkalemic Periodic Paralysis |
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Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Hyperkalemia, Myotonia, Elevated... |
ORPHA:682 |
Myotonic Dystrophy 1 |
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Atrial fibrillation, Atrial flutter, First degree atrioventricular block, Myotonia |
OMIM:160900 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Dilated cardiomyopathy, Sudden cardiac death, Myotonia, Elevated circulating creatine kinase conc... |
ORPHA:98855 |
Emery-Dreifuss Muscular Dystrophy |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Myotonia, Elevated cir... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Myotonia, Elevated cir... |
ORPHA:98853 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Hypertrophic cardiomyopathy, Sudden cardiac death, Myotonia, Elevated circulating creatine kinase... |
ORPHA:98863 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
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Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Elevated circulating cre... |
ORPHA:324442 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Myotonia |
OMIM:255710 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Percussion myotonia |
ORPHA:34516 |
Zebra Body Myopathy |
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Elevated circulating creatine kinase concentration, Handgrip myotonia |
ORPHA:97240 |
Acetazolamide-Responsive Myotonia |
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Myotonia |
ORPHA:99736 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Left ventricular systolic dysfunction, EMG: myotonic runs, Elevated circulating creatine kinase c... |
ORPHA:353 |
Episodic Ataxia, Type 2 |
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Myotonia |
OMIM:108500 |
Richieri Costa-Da Silva Syndrome |
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Handgrip myotonia, Myotonia of the upper limb |
ORPHA:3101 |
Myotonia Permanens |
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Myotonia |
ORPHA:99735 |
Episodic Ataxia Type 1 |
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Myotonia |
ORPHA:37612 |
Spastic Paraplegia 79, Autosomal Recessive |
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Myotonia |
OMIM:615491 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Myotonia |
ORPHA:391307 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Myotonia |
OMIM:601559 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Muscle mounding, Decreased circulating IgA level, Elevated circulating creatine kinase concentrat... |
OMIM:613327 |
Schwartz-Jampel Syndrome, Type 1 |
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Myotonia |
OMIM:255800 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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EMG: myotonic runs, Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
Idiopathic Camptocormia |
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Elevated circulating creatine kinase concentration, Myotonia |
ORPHA:1320 |
Schwartz-Jampel Syndrome |
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Pulmonary arterial hypertension, Elevated circulating creatine kinase concentration, Arrhythmia, ... |
ORPHA:800 |
Steinert Myotonic Dystrophy |
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Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Myotonia of... |
ORPHA:273 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Handgrip myotonia |
ORPHA:438216 |