hereditary spastic paraplegia 9A

A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Signs and symptoms

• Lower limb hyperreflexia
• Distal muscle weakness
• Spastic gait
• Hoffmann sign
• Babinski sign
• Motor polyneuropathy
• Carpal bone hypoplasia
• Short stature
• Gastroesophageal reflux
• Lower limb spasticity

Also known as: AD-SPG9A; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; SPG9A; autosomal dominant complex spastic paraplegia type 9A; autosomal dominant spastic paraplegia 9A