Thomsen And Becker Disease |
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Myotonia |
ORPHA:614 |
Myotonia Congenita, Autosomal Dominant |
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Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... |
OMIM:160800 |
Rippling Muscle Disease 1 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Paramyotonia Congenita Of Von Eulenburg |
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Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... |
ORPHA:684 |
Myotonia Congenita, Autosomal Recessive |
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Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
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Myotonia |
OMIM:254950 |
Paramyotonia Congenita |
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Handgrip myotonia, Percussion myotonia, Paradoxical myotonia |
OMIM:168300 |
Muscular Dystrophy, Barnes Type |
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Myotonia |
OMIM:158800 |
Rippling Muscle Disease 2 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Brody Disease |
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Percussion myotonia, Myotonia |
OMIM:601003 |
Hyperkalemic Periodic Paralysis |
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Myotonia |
OMIM:170500 |
Myotonia, Potassium-Aggravated |
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Handgrip myotonia, Myotonia, Percussion myotonia |
OMIM:608390 |
Hypokalemic Periodic Paralysis, Type 2 |
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Myotonia |
OMIM:613345 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Myotonia |
ORPHA:371 |
Myotonia Fluctuans |
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Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... |
ORPHA:99734 |
Hypokalemic Periodic Paralysis, Type 1 |
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Myotonia |
OMIM:170400 |
Myofibrillar Myopathy 10 |
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Percussion myotonia, Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
Distal Myopathy, Tateyama Type |
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Percussion-induced rapid rolling muscle contractions, Palpitations |
ORPHA:488650 |
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
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Myotonia |
OMIM:255710 |
Acetazolamide-Responsive Myotonia |
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Myotonia |
ORPHA:99736 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Percussion myotonia |
ORPHA:34516 |
Myotonic Dystrophy 1 |
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Atrial fibrillation, First degree atrioventricular block, Myotonia, Atrial flutter |
OMIM:160900 |
Myotonic Dystrophy 2 |
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Handgrip myotonia, Myotonia, Palpitations, Premature ventricular contraction, Tachycardia, Right ... |
OMIM:602668 |
Myopathy, X-Linked, With Excessive Autophagy |
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Myotonia |
OMIM:310440 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
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Myotonia |
ORPHA:209335 |
Episodic Ataxia, Type 2 |
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Myotonia |
OMIM:108500 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
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Handgrip myotonia, Myotonia, Percussion-induced rapid rolling muscle contractions |
ORPHA:324442 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Atrioventricular block, Dilated cardiomyopathy, Myotonia, Ventricular escape rhythm, Supraventric... |
ORPHA:98855 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Atrioventricular block, Dilated cardiomyopathy, Myotonia, Hypertrophic cardiomyopathy, Ventricula... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Atrioventricular block, Dilated cardiomyopathy, Myotonia, Hypertrophic cardiomyopathy, Ventricula... |
ORPHA:261 |
Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Atrioventricular block, Myotonia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Suprave... |
ORPHA:98863 |
Hyperkalemic Periodic Paralysis |
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Arrhythmia, Myotonia, Congestive heart failure |
ORPHA:682 |
Episodic Ataxia Type 1 |
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Myotonia |
ORPHA:37612 |
Richieri Costa-Da Silva Syndrome |
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Handgrip myotonia, Myotonia of the upper limb |
ORPHA:3101 |
Congenital-Onset Steinert Myotonic Dystrophy |
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Bundle branch block, First degree atrioventricular block, Myotonia |
ORPHA:589821 |
Zebra Body Myopathy |
|
Handgrip myotonia |
ORPHA:97240 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Myotonia |
ORPHA:391307 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Left ventricular systolic dysfunction, EMG: myotonic runs |
ORPHA:353 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
Schwartz-Jampel Syndrome, Type 1 |
|
Percussion myotonia |
OMIM:255800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia |
OMIM:620275 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial hypertension, Myotonia |
OMIM:601559 |
Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Muscle mounding, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia |
OMIM:613327 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia |
ORPHA:438216 |
Schwartz-Jampel Syndrome |
|
Arrhythmia, Pulmonary arterial hypertension, Myotonia |
ORPHA:800 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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EMG: myotonic runs, Cardiomyopathy |
ORPHA:206549 |
Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Dilated cardiomyopathy, Myotonia with warm-up phenomenon, Left ventricular sys... |
ORPHA:273 |