| Disease ID | Source | Name | Description |
| 604484 | OMIM | Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) | A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. The disease is caused by variants affecting the gene represented in this entry. |
| 615658 | OMIM | Spastic paraplegia 57, autosomal recessive (SPG57) | A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. The disease is caused by variants affecting the gene represented in this entry. |