{"orpha":371007,"name":"Congenital muscular dystrophy with hyperlaxity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMDH"],"definition":"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-371007/","orphanet_url":"https://www.orpha.net/en/disease/detail/371007","names":{"fr":{"name":"Dystrophie musculaire congénitale avec hyperlaxité","synonyms":["CMDH","DMCH"],"definition":"Une maladie neuromusculaire génétique rare caractérisée par une hypotonie congénitale, une faiblesse musculaire généralisée, lentement progressive, et des contractures articulaires proximales avec hypermobilité et hyperlaxité articulaires distales. Une scoliose ou une rigidité de la colonne vertébrale est aussi fréquemment rapportée, ainsi qu'un retard de l'acquisition des jalons moteurs. Les autres manifestations incluent un visage long myopathique, et dans de rares cas, une insuffisance respiratoire, un déficit intellectuel léger à modéré et une petite taille. La locomotion peut être affectée avec le temps."},"de":{"name":"Kongenitale Muskeldystrophie mit Gelenkinstabilität","synonyms":["CMDH"],"definition":"Kongenitale Muskeldystrophie mit Hyperlaxie ist eine seltene, genetisch bedingte neuromuskuläre Erkrankung, die durch kongenitale Hypotonie, generalisierte, langsam fortschreitende Muskelschwäche und proximale Gelenkkontrakturen mit distaler Gelenkhypermobilität und Hyperlaxie gekennzeichnet ist. Skoliose oder Steifheit der Wirbelsäule und verzögerte motorische Meilensteine werden ebenfalls häufig berichtet. Weitere Manifestationen sind ein langes Gesicht mit Schwäche der Gesichtsmuskulatur und in seltenen Fällen Ateminsuffizienz, leichte bis mäßige intellektuelle Defizite und Kleinwuchs. Die Gehfähigkeit kann mit der Zeit beeinträchtigt sein."},"es":{"name":"Distrofia muscular congénita con hiperlaxitud","synonyms":["CMDH"],"definition":"La distrofia muscular congénita con hiperlaxitud es una enfermedad neuromuscular genética poco frecuente caracterizada por hipotonía congénita, debilidad muscular generalizada lentamente progresiva, y contracturas articulares proximales con hipermovilidad e hiperlaxitud articular distal. También se ha descrito con frecuencia asociación con escoliosis o rigidez espinal y retraso del desarrollo motor. Otras manifestaciones incluyen facies miopática alargada y, en casos raros, insuficiencia respiratoria, retraso intelectual de leve a moderado y baja estatura. La deambulación puede verse afectada con el tiempo."},"it":{"name":"Distrofia muscolare congenita con iperlassità","synonyms":["CMDH"],"definition":"La distrofia muscolare congenita con iperlassità è una malattia neuromuscolare genetica rara, caratterizzata da ipotonia congenita, debolezza muscolare a progressione lenta e contratture delle articolazioni prossimali associate a ipermobilità e iperlassità articolare. Spesso si associano la scoliosi o la rigidità della colonna vertebrale e il ritardo dello sviluppo motorio. Altri segni clinici sono il viso allungato con aspetto miopatico e, in rari casi, l'insufficienza respiratoria, il deficit intellettivo lieve-moderato e la bassa statura. Con il tempo, può essere compromessa la deambulazione."},"nl":{"name":"Congenitale spierdystrofie met hyperlaxiteit","synonyms":["CMDH"],"definition":"Congenitale spierdystrofie met hyperlaxiteit is een zeldzame, genetische neuromusculaire stoornis die gekarakteriseerd wordt door congenitale hypotonie, gegeneraliseerde en traag progressieve spierzwakte, en proximale gewrichtscontracturen met hypermobiliteit en hyperlaxiteit van distale gewrichten. Scoliose of starheid van de ruggengraat en uitgestelde motorische mijlpalen worden ook frequent gerapporteerd. Andere manifestaties zijn onder meer een lang myopathisch gelaat en, in zeldzame gevallen, respiratoir falen, milde tot matige intellectuele deficiëntie en kleine gestalte. Na verloop van tijd kan het stappen verstoord worden."},"pt":{"name":"Distrofia muscular congénita com hipermobilidade"},"pl":{"name":"Wrodzona dystrofia mięśniowa z nadmierną wiotkością","synonyms":["CMDH"]},"cs":{"name":"Vrozená svalová dystrofie s hyperlaxitou","synonyms":["CMDH"]},"uk":{"name":"Вроджена мязова дистрофія з гіперрозтягнутістю","synonyms":["CMDH"],"definition":"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time."},"zh":{"name":"先天性肌营养不良伴过度松弛","synonyms":["CMDH"],"definition":"先天性肌营养不良伴过度松弛是一种罕见的遗传性神经肌肉疾病，其特征是先天性肌张力低、全身性缓慢进行性肌无力以及近端关节挛缩伴远端关节过度活动和过度松弛。脊柱侧弯或脊柱僵硬以及运动里程碑延迟也常被报道。本病的其他表现包括面容修长，极少数情况下会出现呼吸衰竭、轻至中度智力缺陷和身材矮小。随着时间的推移，患者的行走能力也可能会受损。"},"tr":{"name":"Hiperlaksite ile seyreden doğumsal kas distrofisi","synonyms":["CMDH"]}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706389","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"16760198[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16760198[PMID]"}],"phenotypes":null}