A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP)
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP)
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.
disease, muscle weakness, pressure, muscular dystrophies, report, muscle, wales, neurology, mutation
525-528
Marsh, Eleanor A.
2d39d92f-ee58-45a3-a3ae-ec924ce092d5
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
May 2008
Marsh, Eleanor A.
2d39d92f-ee58-45a3-a3ae-ec924ce092d5
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Marsh, Eleanor A. and Robinson, David O.
(2008)
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).
Clinical Neurology and Neurosurgery, 110 (5), .
(doi:10.1016/j.clineuro.2008.02.007).
Abstract
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.
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Published date: May 2008
Keywords:
disease, muscle weakness, pressure, muscular dystrophies, report, muscle, wales, neurology, mutation
Identifiers
Local EPrints ID: 60028
URI: http://eprints.soton.ac.uk/id/eprint/60028
ISSN: 0303-8467
PURE UUID: 8f5c08f6-ae3e-4b67-9d6d-1875bbba9e69
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Date deposited: 14 Nov 2008
Last modified: 15 Mar 2024 11:18
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Author:
Eleanor A. Marsh
Author:
David O. Robinson
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