hereditary spastic paraplegia 42
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.
MONDO:0015149
pure hereditary spastic paraplegia
is_a
SLC33A1 autosomal dominant pure spastic paraplegia
exact
SPG42
exact
autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1
exact
autosomal dominant spastic paraplegia type 42
exact
hereditary spastic paraplegia type 42
exact
spastic paraplegia 42, autosomal dominant
related
SPBC21B10.09