8C70.40
Dominant limb-girdle muscular dystrophy
Distrofia muscular de cinturas dominante
CategoryDefinition
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.
Exclusions
- Secondary myopathies
- Myasthenia gravis or certain specified neuromuscular junction disorders
Index Terms
Dominant limb-girdle muscular dystrophyLGMD1 - [limb-girdle muscular dystrophy] 1Limb-girdle muscular dystrophy 1A, myotilin myopathyLGMD 1A - [Limb-girdle muscular dystrophy 1A, myotilin myopathy]Limb-girdle muscular dystrophy 1B, lamin myopathyLGMD 1B - [Limb-girdle muscular dystrophy 1B, lamin myopathy]Limb-girdle muscular dystrophy 1C, caveolin myopathyLGMD 1C - [Limb-girdle muscular dystrophy 1C, caveolin myopathy]Limb-girdle muscular dystrophy 1D, gene mapped to 6q23Limb-girdle muscular dystrophy 1E, gene mapped to 7qLimb-girdle muscular dystrophy 1F, gene mapped to 7q32.1-32.2Limb-girdle muscular dystrophy 1G, gene mapped to 4q21Limb-girdle muscular dystrophy 1H, gene mapped to 3p25.1p23LGMD1H - [Limb-girdle muscular dystrophy] 1H