| Disease ID | Source | Name | Description |
| 605726 | OMIM | Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2) | An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 614373 | OMIM | Amyotrophic lateral sclerosis 16, juvenile (ALS16) | A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. The disease is caused by variants affecting the gene represented in this entry. |