juvenile amyotrophic lateral sclerosis type 27

An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and tha

An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.

Signs and symptoms

• Fiber type grouping
• Tongue atrophy
• Angulated muscle fibers
• Lower limb muscle weakness
• Tongue fasciculations
• Intrinsic hand muscle atrophy
• Generalized amyotrophy
• Progressive muscle weakness
• Generalized muscle weakness
• Gait disturbance