| Disease ID | Source | Name | Description |
| 608423 | OMIM | Muscular dystrophy, limb-girdle, autosomal dominant 2 (LGMDD2) | An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. The disease is caused by variants affecting the gene represented in this entry. |