Charcot-Marie-Tooth Neuropathy X Type 5 . CMTX5. Rosenberg-Chutorian Syndrome
Incidence
Rosenberg-Chutorian syndrome is inherited as an X-linked disorder with occasional mild symptoms present in the female carrier. Prevalence has not been estimated. Two families with CMTX5 have been identified worldwide. Update 2017/ MGJM.
Clinical Characteristics
Rosenberg-Chutorian syndrome is an extremely rare genetic disorder characterized by the triad of hearing loss, degeneration of the optic nerve (optic atrophy) and neurological abnormalities, specifically disease of the nerves outside of the central nervous system (peripheral neuropathy). The arms and legs are most often affected by peripheral neuropathy.
X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1-related disorders, is characterized by peripheral neuropathy, early-onset (prelingual) bilateral profound sensorineural hearing loss, and optic neuropathy. The onset of peripheral neuropathy is between ages five and 12 years. The lower extremities are affected earlier and more severely than upper extremities. Initial manifestations often include foot drop or gait disturbance. Onset of visual impairment is between ages seven and 20 years. Intellect and life span are normal. Carrier females do not have findings of CMTX5.
The clinical manifestations include a spastic paraparesis, high arches, and hammertoes with a predominantly axonal motor sensory neuropathy. The disease has a fairly good prognosis, but the prominent weakness and spasticity may cause disability later in life
Precipitants
No
Provocation Tests
No
Diagnostic Procedures
Diagnosis is based on clinical findings, family history consistent with X-linked inheritance, and identification of a disease-causing mutation in PRPS1, the only gene in which mutations are known to cause CMTX5