/hereditary spastic paraplegia 42

hereditary spastic paraplegia 42

Rare Disease

MONDO:0012928

Also Known As

SLC33A1 autosomal dominant pure spastic paraplegiaSPG42autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1autosomal dominant spastic paraplegia 42autosomal dominant spastic paraplegia type 42hereditary spastic paraplegia type 42spastic paraplegia 42, autosomal dominant

Definition

Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.