Spastic paraplegia-neuropathy-poikiloderma syndrome

Orpha code: 2821OMIM code: 182815

Definition

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
Classification

Disease

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

No additional description.

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