title: Peripheral neuropathy in myotonic dystrophy type 1.
abstract: Myotonic dystrophy 1 (DM1) is characterized by a wide range of clinical features. We aimed to verify the presence of peripheral nerve involvement in a large cohort of DM1 patients and to determine clinical consequences. A total of 93 patients underwent detailed neurological examination and nerve conduction studies. Additionally, balance impairment was assessed with the Berg Balance Scale and health status was evaluated with the SF-36 health survey. Sensory symptoms were not reported and mild sensory signs were found in six patients. Electrophysiological abnormalities consistent with a diagnosis of neuropathy were found in 16 patients (17%). Peripheral nerve involvement was significantly associated with decreased muscle strength (p = 0.001) and absence of Achilles-tendon reflexes (p = 0.003), but not with age or duration of neuromuscular symptoms. It had no significant effect on balance, mental or physical health. In conclusion, peripheral nerve involvement may be one of the multisystemic manifestations of DM1, but is usually subclinical. Other causes should be excluded when sensory symptoms or signs are severe.
authors.affiliation: Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands. m.hermans@mumc.nl
authors.forename: Mieke C E
authors.initials: MC
authors.lastname: Hermans
authors.forename: Catharina G
authors.initials: CG
authors.lastname: Faber
authors.forename: Els K
authors.initials: EK
authors.lastname: Vanhoutte
authors.forename: Mayienne
authors.initials: M
authors.lastname: Bakkers
authors.forename: Marc H
authors.initials: MH
authors.lastname: De Baets
authors.forename: Christine E M
authors.initials: CE
authors.lastname: de Die-Smulders
authors.forename: Ingemar S J
authors.initials: IS
authors.lastname: Merkies
mesh_terms: D000328:Adult; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000503:physiopathology