Myotonia
Symptom Information:
Symptom ID: | HPO:0002486 | ||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the musculature(HPO:0003011) Abnormality of muscle physiology(HPO:0011804) Myotonia(HPO:0002486) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Muscle disorders(MedDRA:10028302) Muscle tone abnormalities(MedDRA:10028343) Myotonia(HPO:0002486) |
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Database Frequency: | 29 / 7739 | ||||||||||||||||||
Resource: |
All diseases associated with this symptom:
Acetazolamide-responsive myotonia | (Orphanet:99736) |
Arthrogryposis due to muscular dystrophy | (Orphanet:1155) |
Autosomal recessive axonal neuropathy with neuromyotonia | (Orphanet:324442) |
Becker muscular dystrophy | (Orphanet:98895) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Duchenne muscular dystrophy | (Orphanet:98896) |
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity | (Orphanet:352654) |
Emery-Dreifuss muscular dystrophy | (Orphanet:261) |
Familial paroxysmal ataxia | (Orphanet:97) |
Glycogen storage disease due to acid maltase deficiency, late-onset | (Orphanet:420429) |
Glycogen storage disease due to muscle phosphofructokinase deficiency | (Orphanet:371) |
Hyperkalemic periodic paralysis | (Orphanet:682) |
MUSCULAR DYSTROPHY, BARNES TYPE | (OMIM:158800) |
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA | (OMIM:254950) |
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | (OMIM:160800) |
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE | (OMIM:255700) |
Muscular dystrophy - white matter spongiosis | (Orphanet:1877) |
Myotonia fluctuans | (Orphanet:99734) |
Myotonia permanens | (Orphanet:99735) |
Potassium-aggravated myotonia | (Orphanet:612) |
Proximal myotonic myopathy | (Orphanet:606) |
Richieri Costa-da Silva syndrome | (Orphanet:3101) |
SHORT syndrome | (Orphanet:3163) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Tay-Sachs disease | (Orphanet:845) |
Thomsen and Becker disease | (Orphanet:614) |
X-linked myopathy with excessive autophagy | (Orphanet:25980) |