| Disease ID | Source | Name | Description |
| 617072 | OMIM | Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC) | An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. The disease is caused by variants affecting the gene represented in this entry. |