Paramyotonia Congenita Of Von Eulenburg |
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Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
Myotonia Congenita, Autosomal Dominant |
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Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Rippling Muscle Disease 1 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Rippling Muscle Disease 2 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding, Elevated circulating creat... |
OMIM:606072 |
Myotonia Congenita, Autosomal Recessive |
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Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
Myotonia, Potassium-Aggravated |
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Percussion myotonia, Handgrip myotonia, Myotonia, Elevated circulating creatine kinase concentration |
OMIM:608390 |
Paramyotonia Congenita |
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Percussion myotonia, Handgrip myotonia, Paradoxical myotonia |
OMIM:168300 |
Thomsen And Becker Disease |
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Myotonia |
ORPHA:614 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Hyperkalemic Periodic Paralysis |
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Myotonia, Hyperkalemia |
OMIM:170500 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Myotonia, Hyperuricemia |
ORPHA:371 |
Distal Myopathy, Tateyama Type |
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Hypercholesterolemia, Percussion-induced rapid rolling muscle contractions, Abnormal circulating ... |
ORPHA:488650 |
Hypokalemic Periodic Paralysis |
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Impaired myocardial contractility, Myotonia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Normokalemic Periodic Paralysis |
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Percussion myotonia |
OMIM:170600 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
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Myotonia |
OMIM:254950 |
Myofibrillar Myopathy 10 |
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Percussion myotonia, Prolonged QTc interval, Increased QRS voltage, Elevated circulating creatine... |
OMIM:619040 |
Myotonia Fluctuans |
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Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... |
ORPHA:99734 |
Brody Disease |
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Percussion myotonia, Myotonia |
OMIM:601003 |
Hypokalemic Periodic Paralysis, Type 1 |
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Hypokalemia, Myotonia |
OMIM:170400 |
Muscular Dystrophy, Barnes Type |
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Myotonia |
OMIM:158800 |
Myotonic Dystrophy 2 |
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Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Pre... |
OMIM:602668 |
Hyperkalemic Periodic Paralysis |
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Hyponatremia, Myotonia, Elevated circulating creatine kinase concentration, Congestive heart fail... |
ORPHA:682 |
Myopathy, X-Linked, With Excessive Autophagy |
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Myotonia, Elevated circulating creatine kinase concentration |
OMIM:310440 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
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Myotonia, Elevated circulating creatine kinase concentration |
ORPHA:209335 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Elevated circulating creatine kinase c... |
ORPHA:98855 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Elevated circulating creatine kinase c... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Elevated circulating creatine kinase c... |
ORPHA:261 |
Myotonic Dystrophy 1 |
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Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Elevated circulating creatine kinase c... |
ORPHA:98863 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
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Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia, Elevated circu... |
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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Handgrip myotonia, Elevated circulating creatine kinase concentration |
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, Elevated circulating creatine kinase concentration, EMG: m... |
ORPHA:353 |
Congenital-Onset Steinert Myotonic Dystrophy |
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Bundle branch block, Myotonia, First degree atrioventricular block |
ORPHA:589821 |
Episodic Ataxia, Type 2 |
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Myotonia |
OMIM:108500 |
Myotonia Permanens |
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Myotonia |
ORPHA:99735 |
Episodic Ataxia Type 1 |
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Myotonia |
ORPHA:37612 |
Thyrotoxic Periodic Paralysis |
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Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Myotonia, Shortened PR i... |
ORPHA:79102 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Myotonia |
ORPHA:391307 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Myotonia |
OMIM:615491 |
Richieri Costa-Da Silva Syndrome |
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Handgrip myotonia, Myotonia of the upper limb |
ORPHA:3101 |
Schwartz-Jampel Syndrome, Type 1 |
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Percussion myotonia, Elevated circulating creatine kinase concentration |
OMIM:255800 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Idiopathic Camptocormia |
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Myotonia, Elevated circulating creatine kinase concentration |
ORPHA:1320 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Cardiomyopathy, Elevated circulating creatine kinase concentration, EMG: myotonic runs |
ORPHA:206549 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial hypertension, Myotonia, Pulmonary arterial medial hypertrophy |
OMIM:601559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
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Percussion myotonia |
OMIM:620275 |
Schwartz-Jampel Syndrome |
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Pulmonary arterial hypertension, Arrhythmia, Myotonia, Elevated circulating creatine kinase conce... |
ORPHA:800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Handgrip myotonia |
ORPHA:438216 |
Steinert Myotonic Dystrophy |
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Handgrip myotonia, Myotonia of the upper limb, Atrial fibrillation, Prolonged QRS complex, Left v... |
ORPHA:273 |