Myotonia

Symptom Information:

Symptom ID: HPO:0002486
Synonyms:
Delayed relaxation of muscle fibers after contraction [HPO:0002486]
Myotonia (finding) [Orphanet:44100]
Myotonia [Orphanet:44100]
Delayed relaxation of muscle fibers after contraction [OMIM:Delayed relaxation of muscle fibers after contraction]
Myotonia [OMIM:Myotonia]
Myotonia [MedDRA:10061533]
Myotonia NOS [MedDRA:10061533]
Myotonic disorders [MedDRA:10061533]
Myotonia aggravated [MedDRA:10061533]
Myotonia (delayed muscle relaxation after contraction) [OMIM:Myotonia (delayed muscle relaxation after contraction)]
Myotonia (in 1 patient) [OMIM:Myotonia (in 1 patient)]
Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest) [OMIM:Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)]
Quality:
Cross references:
Orphanet:44100 "Myotonia" [Orphanet:44100]
OMIM: "Delayed relaxation of muscle fibers after contraction" [OMIM:Delayed relaxation of muscle fibers after contraction]
OMIM: "Myotonia" [OMIM:Myotonia]
OMIM: "Myotonia (delayed muscle relaxation after contraction)" [OMIM:Myotonia (delayed muscle relaxation after contraction)]
OMIM: "Myotonia (in 1 patient)" [OMIM:Myotonia (in 1 patient)]
OMIM: "Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)" [OMIM:Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)]
UMLS:C0027125 "Myotonia" [HPO:0002486]
UMLS:C0027125 "Myotonia" [Orphanet:44100]
Is a (Direct Parents):
MedDRA Muscle tone abnormalities
HPO         Handgrip myotonia
HPO         Myotonia of the jaw
HPO         Myotonia of the lower limb
HPO         Abnormality of muscle physiology
Orphanet Muscle anomalies
HPO         Myotonia of the upper limb
HPO         Cold-sensitive myotonia
HPO         Myotonia of the face
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)
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)