Reardon Wilson Cavanagh syndrome
Other Names: Familial ataxia, deafness, and developmental delay; Ataxia, hearing loss, and mental retardation; Ataxia-deafness-retardation syndrome; ADR syndrome
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.
Epidemiology[edit | edit source]
It has been described in two families.
Inheritance[edit | edit source]
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Transmission may be X-linked recessive.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Ataxia
- Intellectual disability(Mental deficiency)
- Nystagmus(Involuntary, rapid, rhythmic eye movements)
- Sensorineural hearing impairment
- Strabismus(Cross-eyed)
30%-79% of people have these symptoms
- Abnormal palate morphology(Abnormality of the palate)
- Aplasia/Hypoplasia of the cerebellum(Absent/small cerebellum)
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
- Decreased nerve conduction velocity
- EMG abnormality
- Muscular hypotonia(Low or weak muscle tone)
- Neurological speech impairment(Speech disorder)
- Reduced tendon reflexes
- Scoliosis
- Skeletal muscle atrophy(Muscle degeneration)
- Ventriculomegaly
5%-29% of people have these symptoms
- Joint hyperflexibility(Joints move beyond expected range of motion)
Differential diagnosis[edit | edit source]
The clinical picture is similar to that seen in Richards-Rundle syndrome.
NIH genetic and rare disease info[edit source]
Reardon Wilson Cavanagh syndrome is a rare disease.
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