Disease Browser
Parent Node: Muscular Diseases (D009135) ..Starting node .. Myotonic Disorders (D020967) Child Nodes:
........Myotonia Congenita (D009224) 5 ........Myotonic Dystrophy (D009223) 1 ........Myotonic Myopathy with Cylindrical Spirals (C563535) ........Paramyotonia congenita of Von Eulenburg (C538616) Sister Nodes: ..Alpha-B Crystallinopathy (C563848) ..Anal Sphincter Myopathy, Internal (C566287) ..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945) ..Arthrogryposis (D001176) 55 ..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974) ..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) ..Compartment Syndromes (D003161) 3 ..Contracture (D003286) 41 ..Craniomandibular Disorders (D017271) 4 ..Dimauro disease (C536176) ..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596) ..Eosinophilia-Myalgia Syndrome (D016603) ..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420) ..Erythrocyte Amp Deaminase Deficiency (C567878) ..Erythrocyte Lactate Transporter Defect (C565449) ..Fatigue Syndrome, Chronic (D015673) ..Fibromyalgia (D005356) ..Fingerprint Body Myopathy (C564425) ..Hereditary Myopathy with Early Respiratory Failure (C566343) ..Hypertrophia Musculorum Vera (C564152) ..Isaacs Syndrome (D020386) ..Kocher-Debre-Semelaigne syndrome (C537211) ..Marinesco-Sjogren-like syndrome (MSLS) (C535913) ..Medial Tibial Stress Syndrome (D058923) ..Mesoectodermal dysplasia (C538472) ..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698) ..Mitochondrial Myopathies (D017240) 33 ..Muscle Cramp (D009120) 3 ..Muscle Neoplasms (D019042) ..Muscle Rigidity (D009127) 3 ..Muscle Spasticity (D009128) 17 ..Muscle Weakness (D018908) 5 ..Muscular Disorders, Atrophic (D020966) 120 ..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553) ..Musculoskeletal Pain (D059352) 2 ..Myalgia (D063806) ..Myofascial Pain Syndromes (D009209) 1 ..Myopathic carnitine deficiency (C536100) ..Myopathies, Structural, Congenital (D020914) 34 ..Myopathy due to Malate-Aspartate Shuttle Defect (C564973) ..Myopathy with Giant Abnormal Mitochondria (C564971) ..Myopathy with Lactic Acidosis, Hereditary (C564972) ..Myopathy, Cataract, Hypogonadism Syndrome (C563578) ..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102) ..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896) ..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129) ..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974) ..Myopathy, Hyaline Body, Autosomal Recessive (C564970) ..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419) ..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452) ..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954) ..Myopathy, Myosin Storage (C564253) ..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468) ..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469) ..Myopathy, X-Linked, with Excessive Autophagy (C564093) ..Myositis (D009220) 16 ..Myostatin-related muscle hypertrophy (C536106) ..Myotonic Disorders (D020967) 10 ..Neutral Lipid Storage Disease with Myopathy (C565192) ..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925) ..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117) ..Paralyses, Familial Periodic (D010245) 7 ..Pectoralis Muscle, Absence of (C566793) ..Polymyalgia Rheumatica (D011111) ..Proximal Myopathy with Focal Depletion of Mitochondria (C563453) ..Rhabdomyolysis (D012206) 6 ..Rippling muscle disease, 1 (C535686) ..Salih Myopathy (C580430) ..Secretory Diarrhea, Myopathy, and Deafness (C564382) ..Singleton Merten syndrome (C537343) ..Systemic carnitine deficiency (C536778) ..Tel Hashomer camptodactyly syndrome (C536953) ..Tendinopathy (D052256) 5 ..Treft Sanborn Carey syndrome (C536544) ..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560) ..Uruguay Faciocardiomusculoskeletal Syndrome (C564544) ..Vacuolar myopathy (C536522) ..VLCAD deficiency (C536353) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 7737
Name: Myotonic Disorders
Definition: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.
Alternative IDs:
ParentIDs: MESH:D009135
TreeNumbers: C05.651.662 |C10.668.491.606
Synonyms: Congenita, Paramyotonia |Disease, Eulenburg |Disease, Eulenburg's |Disorder, Myotonic |Disorders, Myotonic |Eulenburg Disease |Eulenburg's Disease |Eulenburgs Disease |Fluctuans, Myotonia |Myopathies, Myotonic |Myopathy, Myotonic |Myotonia Fluctuans |Myotonic Disord
Slim Mappings: Musculoskeletal disease|Nervous system disease
Reference:
MedGen: D020967
MeSH: D020967
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants