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):
HPO         Myotonia of the lower limb
HPO         Myotonia of the upper limb
HPO         Handgrip myotonia
HPO         Myotonia of the face
MedDRA Muscle tone abnormalities
HPO         Cold-sensitive myotonia
Orphanet Muscle anomalies
HPO         Abnormality of muscle physiology
HPO         Myotonia of the jaw
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)