Conditions / Nervous system
amyotrophic lateral sclerosis type 4
info · Nervous system · ICD-10: G12.2
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
Signs and symptoms
- Degeneration of anterior horn cells
- Atrophy of the spinal cord
- Abnormal lower motor neuron morphology
- EMG: positive sharp waves
- Pallor of dorsal columns of the spinal cord
- Gait disturbance
- Babinski sign
- Distal amyotrophy
- Distal muscle weakness
- Muscle fibrillation
Also known as: ALS4; amyotrophic lateral sclerosis 4; amyotrophic lateral sclerosis 4, juvenile; dHMN with upper motor neuron signs; distal hereditary motor neuropathy with pyramidal features