autosomaal dominante 'limb-girdle'-spierdystrofie type 1A (aandoening) DEPRECATED
autosomaal dominante 'limb-girdle'-spierdystrofie type 1A
LGMD1A
gordeldystrofie door myotilinedeficiëntie
'limb-girdle muscular dystrophy' door myotilinedeficiëntie
Autosomal dominant limb girdle muscular dystrophy type 1A
Limb-girdle muscular dystrophy 1A myotilin myopathy
Limb girdle muscular dystrophy due to myotilin deficiency
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
Id719985001
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2025-07-01)
REPLACED BY association reference set765196004 | distale myotilinopathie | (2025-07-01)
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map266