amyotrophic lateral sclerosis type 28

An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinuc

An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.

Signs and symptoms

• Lower limb muscle weakness
• Skeletal muscle atrophy
• Diminished deep tendon reflex
• Difficulty climbing stairs
• Dysphagia
• Dysarthria
• Fiber type grouping
• Gait disturbance
• Upper limb muscle weakness
• Fasciculations