Spastic paraplegia-neuropathy-poikiloderma syndrome

MONDO:0008442

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.

Also known as: Antinolo-Nieto-Borrego syndrome, familial spastic paraplegia with neuropathy and poikiloderma, spastic paraplegia neuropathy poikiloderma, spastic paraplegia with neuropathy and poikiloderma

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