Search for a rare disease
Other search option(s)
Mutilating hereditary sensory neuropathy with spastic paraplegia
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
ORPHA:139578Classification level: Disorder
- Mutilating HSAN with spastic paraplegia
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood, Infancy
- ICD-10: G60.8
- OMIM: 256840
- UMLS: C1850395
- MeSH: -
- GARD: -
- MedDRA: -
So far, around nine families have been described in the literature, together with a few sporadic cases.
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.
Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance.
Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive.