Spastic paraplegia-neuropathy-poikiloderma syndrome

Orpha code: 2821OMIM code: 182815

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Antinolo-Nieto-Borrego syndrome
Zespół Antinolo, Nieto i Borrego
Kod ORPHA
2821
Kod OMIM
182815
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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