Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

What it is

A rare neurologic syndrome with peripheral neuropathy characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly progressive and often demyelinating sensorimotor neuropathy where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is progressive, usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. Ataxia may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. Seizures and mild intellectual disability is reported in few patients.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Childhood

Inheritance

Autosomal recessive

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references