Conditions / Genetic
amyotrophic lateral sclerosis type 24
info · Genetic
An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.
Signs and symptoms
- Amyotrophic lateral sclerosis
- Hyperreflexia
- Dysphagia
- Dysarthria
- Respiratory insufficiency
- Skeletal muscle atrophy
- Caudate atrophy
- Bulbar signs
- Tetraparesis
- Hippocampal atrophy