HNPP and OPMD: A case of rare recessive oculopharyngeal muscular dystrophy coexi

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Clin Neurol Neurosurg. 2008 Mar 20

A case of rare recessive oculopharyngeal muscular dystrophy (OPMD)

coexisting with hereditary neuropathy with liability to pressure

palsies (HNPP).

Marsh EA, DO.

Department of Neurology, University Hospital of Wales, Cardiff CF14

4XW, UK.

Oculopharyngeal muscular dystrophy (OPMD) is typically inherited in

an autosomal dominant fashion and is characterized by late onset

proximal muscle weakness, ptosis and difficulty swallowing. It is

caused by expansion mutations in the PABPN1 gene on chromosome 14q11.

There is also a rare recessive form of the disease caused by

homozygosity of a very small expansion mutation in the same gene.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an

autosomal dominant disorder characterized by recurrent peripheral

monofocal neuropathies. In this report a patient with both recessive

OPMD and HNPP is described.

The presence of two genetically unlinked neurological diagnoses in

the same individual is a rare event and may have delayed the

diagnoses.