Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.

Epidemiology

So far, around nine families have been described in the literature, together with a few sporadic cases.

Clinical description

Onset occurs between 1 and 5 years of age with spasticity and progressive severe loss of temperature and pain sensation associated with ulcero-mutilating acropathy.

Etiology

Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance.

Genetic counseling

Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive.