Catalog
Dominant limb-girdle muscular dystrophy
Link to WHO Definition
Dominant limb-girdle muscular dystrophy – http://id.who.int/icd/entity/537908479
The Limb Girdle Muscular Dystrophies (LGMD) are a group of genetic disorders characterised predominantly by progressive wasting and weakness of proximal limb girdle muscles, including pelvic, shoulder, upper arm and thigh muscles. The onset symptoms usually vary from early childhood to late adulthood, and the progression rate and distribution of weakness and wasting also varies considerably among individuals and genetic subtypes. There are currently 8 autosomal dominant LGMDs (LGMD1), linked to specific gene mutations. Dominant LGMDs are often allelic with other clinical disorders, including the myofibrillar myopathies or dilated cardiomyopathy.
Parents
Children
- Limb-girdle muscular dystrophy 1A, myotilin myopathy
- Limb-girdle muscular dystrophy 1F, gene mapped to 7q32.1-32.2
- Limb-girdle muscular dystrophy 1G, gene mapped to 4q21
- Limb-girdle muscular dystrophy 1D, gene mapped to 6q23
- Limb-girdle muscular dystrophy 1H, gene mapped to 3p25.1p23
- Limb-girdle muscular dystrophy 1E, gene mapped to 7q
- Limb-girdle muscular dystrophy 1C, caveolin myopathy
- Limb-girdle muscular dystrophy 1B, lamin myopathy