{"orpha":370959,"name":"Congenital muscular dystrophy with cerebellar involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMD with cerebellar involvement","CMD-CRB"],"definition":"A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370959/","orphanet_url":"https://www.orpha.net/en/disease/detail/370959","names":{"fr":{"name":"Dystrophie musculaire congénitale avec atteinte cérébelleuse","synonyms":["CMD avec atteinte cérébelleuse","CMD avec atteinte du cervelet","CMD-CRB","DMC avec atteinte cérébelleuse","DMC avec atteinte du cervelet","Dystrophie musculaire congénitale avec atteinte du cervelet"],"definition":"Dystrophie musculaire congénitale rare due à une dystroglycanopathie caractérisée par une faiblesse musculaire proximale avec une tendance à l'hypertrophie musculaire et à la pseudohypertrophie, des troubles cognitifs de degré variable, une microcéphalie, une hypoplasie cérébelleuse avec ou sans kystes et d'autres anomalies structurelles du cerveau."},"de":{"name":"Kongenitale Muskeldystrophie mit zerebellärer Beteiligung","synonyms":["CMD mit zerebellärer Beteiligung","CMD-CRB"]},"es":{"name":"Distrofia muscular congénita con afectación cerebelosa","synonyms":["CMD con afectación cerebelosa","CMD-CRB"],"definition":"La distrofia muscular congénita con afectación cerebelosa, es una distrofia muscular congénita poco frecuente, debida a una distroglicanopatía caracterizada por debilidad muscular proximal con tendencia a hipertrofia muscular y pseudohipertrofia, deterioro cognitivo variable, microcefalia, hipoplasia cerebelar con o sin quistes y otras anomalías cerebrales estructurales."},"it":{"name":"Distrofia muscolare congenita con interessamento cerebellare","synonyms":["CMD con coinvolgimento cerebellare","CMD-CRB"],"definition":"La distrofia muscolare congenita con interessamento cerebellare è una distrofia muscolare congenita rara, causata da una distroglicanopatia, caratterizzata da debolezza dei muscoli prossimali con tendenza all'ipertrofia muscolare e alla pseudoipertrofia, deficit cognitivo di gravità variabile, microcefalia, ipoplasia cerebellare con o senza cisti, ed altre anomalie strutturali del cervello."},"nl":{"name":"Congenitale spierdystrofie met cerebellaire betrokkenheid","synonyms":["CMD met cerebellaire betrokkenheid","CMD-CRB"],"definition":"Congenitale spierdystrofie met cerebellaire betrokkenheid is een zeldzame, congenitale musculaire dystrofie als gevolg van dystroglycanopathie, en wordt gekarakteriseerd door zwakte van proximale spieren met een neiging tot hypertrofie en pseudohypertrofie van de spieren, variabele cognitieve beperking, microcefalie, cerebellaire hypoplasie met of zonder cysten, en andere structurele hersenanomalieën."},"pt":{"name":"Distrofia muscular congénita com envolvimento cerebeloso","synonyms":["CMD com envolvimento cerebeloso","CMD-CRB"]},"pl":{"name":"Wrodzona dystrofia mięśniowa z zajęciem móżdżku","synonyms":["CMD z udziałem móżdżku","CMD-CRB"],"definition":"*Wrodzona dystrofia mięśniowa z zajęciem móżdżku jest rzadką, wrodzoną dystrofią mięśniową należącą do dystroglikanopatii. Charakteryzuje się osłabieniem mięśni proksymalnych z tendencją do przerostu lub rzekomego przerostu mięśni, zaburzeniami poznawczymi o zmiennym charakterze, małogłowiem, hipoplazją móżdżku z/bez torbieli oraz innymi strukturalnymi wadami mózgu."},"cs":{"name":"Vrozená svalová dystrofie s postižením mozečku","synonyms":["CMD-CRB","CMD s postižením mozečku"]},"uk":{"name":"Вроджена мязова дистрофія з ураженням мозочка","synonyms":["ВМД із залученням мозочка","CMD-CRB"],"definition":"A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies."},"zh":{"name":"先天性肌营养不良伴小脑受累","synonyms":["CMD伴小脑受累"],"definition":"先天性肌营养不良伴小脑受累是一种由抗萎缩相关糖蛋白病所引起的罕见的先天性肌营养不良，其特征为近端肌无力伴有肌肥大和假性肌肥大的倾向、各种认知障碍、小头畸形，小脑发育不全伴或不伴囊肿和其他脑结构异常。"},"tr":{"name":"Serebellar tutulumu ile seyreden doğumsal kas distrofisi","synonyms":["CMD-CRB","Serebellar tutulum ile seyreden CMD"]}},"xrefs":[{"source":"OMIM","code":"606612","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613151","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613155","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613156","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615351","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1945074995"},{"source":"MONDO","code":"0018277","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy","classifications":[156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POMK","name":"protein O-mannose kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24925318[PMID]","hgnc":"26267","ensembl":"ENSG00000185900","omim":"615247","loci":["8p11.21"]},{"symbol":"FKRP","name":"fukutin related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"17997","ensembl":"ENSG00000181027","omim":"606596","loci":["19q13.32"]},{"symbol":"GMPPB","name":"GDP-mannose pyrophosphorylase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23768512[PMID]_21397493[PMID]","hgnc":"22932","ensembl":"ENSG00000173540","omim":"615320","loci":["3p21.31"]},{"symbol":"POMGNT1","name":"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"19139","ensembl":"ENSG00000085998","omim":"606822","loci":["1p34.1"]},{"symbol":"POMT1","name":"protein O-mannosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"9202","ensembl":"ENSG00000130714","omim":"607423","loci":["9q34.13"]},{"symbol":"POMT2","name":"protein O-mannosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"19743","ensembl":"ENSG00000009830","omim":"607439","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-15","source":"20301468[PMID]_28688748[PMID]_27576556[PMID]_19299310[PMID]_19067344[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030046","label":"Hypoglycosylation of alpha-dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030099","label":"Reduced muscle fiber alpha dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007204","label":"Diffuse white matter abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007260","label":"Type II lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000525","label":"Abnormality iris morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012695","label":"Decreased thalamic volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006899","label":"Fusion of the cerebellar hemispheres","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006955","label":"Olivopontocerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very rare (<4-1%)","criteria":null}]}}