Hereditary Sensory And Autonomic Neuropathy Type 5

A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

Epidemiology

Prevalence is unknown. Only a small number of cases have been described in the literature, although one large multigenerational consanguineous family from northern Sweden has been reported.

Clinical description

Other findings include ulcers, self-mutilation and damaged joints. Intelligence is normal.

Etiology

Mutations in the NGF gene (1p13.1) were detected in affected members of the large Swedish family. However, mutations in the NTRK1 gene (1q21-q22) have been identified in one patient diagnosed with HSAN5 with the additional finding of mild anhidrosis. Mutations in the NTRK1 gene have also been implicated in the more severe HSAN subform, HSAN4 (congenital insensitivity to pain with anhidrosis; see this term).

Genetic counseling

The syndrome is transmitted in an autosomal recessive manner