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Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
Author(s) -
Boukriche Yassine,
Maisonobe Thierry,
Masson Catherine
Publication year - 2002
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.1213
Subject(s) - oculopharyngeal muscular dystrophy , medicine , muscular dystrophy , physical medicine and rehabilitation , anatomy
We report the case of a 65‐year‐old man with a 15‐year history of oculopharyngeal muscular dystrophy (OPMD) harboring a (GCG)11 mutation of the poly(A)‐binding protein 2 (PABP2) gene. He developed, early in the course of the disease, a severe chronic axonal neuropathy. Although the primary myopathic origin of the disease appears to be established, a small number of cases of OPMD with neuropathic features have been described. This case raises the question of a possible neurogenic component to this disease and the role of the length of the mutation in phenotype severity. © 2002 John Wiley & Sons, Inc. Muscle Nerve 25: 98–101, 2002