Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy.
OBJECTIVE
To describe the clinical and electrophysiologic features of an unselected population of patients diagnosed clinically or genetically with oculopharyngeal muscular dystrophy (OPMD), and to discern any association with a peripheral neuropathy.


METHODS
Patients with a clinical or genetic diagnosis of OPMD were retrospectively identified and characterized in terms of clinical and electrophysiologic features.


RESULTS
Fourteen patients who met the design criteria were identified and included. All had progressive ptosis and dysphagia, and most had ophthalmoparesis and proximal limb weakness. The electromyographic findings were similar to findings in other dystrophic diseases. Nine out of 10 patients had normal sural sensory nerve action potentials (mean amplitude 14.2 muV, range 0-22 muV).


CONCLUSIONS
The electrophysiologic findings associated with OPMD are similar to changes noted in other dystrophic diseases. These findings argue against an association between OPMD and peripheral neuropathy.


CONCLUSIONS
OPMD may not be associated with a peripheral neuropathy, as has been previously suggested.
Jones
Lyell K
LK
Department of Neurology, Mayo Clinic, Rochester, MN, USA. lyell@mayo.edu
Harper
C Michel
CM
D000328:Adult; D000368:Aged; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000150:complications / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000503:physiopathology*; D039141:Muscular Dystrophy, Oculopharyngeal / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology*; D018579:Patient Selection; D010525:Peripheral Nerves / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000503:physiopathology; D012189:Retrospective Studies