spastic paraplegia-neuropathy-poikiloderma syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
MONDO:0015087
autosomal dominant complex spastic paraplegia
is_a
Antinolo-Nieto-Borrego syndrome
exact
familial spastic paraplegia with neuropathy and poikiloderma
related
spastic paraplegia neuropathy poikiloderma
related