Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases

Neuromuscul Disord. 2002 Dec;12(10):964-9. doi: 10.1016/s0960-8966(02)00137-2.

Abstract

Limb-girdle myasthenia is an uncommon disease and includes familial and autoimmune forms. Patients present proximal muscle weakness and wasting, and sometimes fatigability, without cranial nerve involvement and fluctuations. We observed, during a 15-year period, nine subjects with limb-girdle myasthenia, (24-55 years; 8 males, 1 female) who constituted 3.2% of 281 myasthenic patients attending our department. All had previously received a diagnosis different from myasthenia. Diagnosis of limb-girdle myasthenia was established by clinical, muscle biopsy and electrophysiological assessment including repetitive nerve stimulation and single fiber electromyography. Five patients had the familial form with tubular aggregates in skeletal muscle; four patients had the autoimmune form. Patients with the familial form had a good response to acetylcholinesterase inhibitors, and the patients with the autoimmune form responded to immunotherapy. Our findings reinforce the opportunity to suspect limb-girdle myasthenia in unclassifiable proximal myopathies and to differentiate familial from autoimmune cases, especially for therapeutic implications.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials
  • Adult
  • Autoimmune Diseases / diagnosis
  • Cholinesterase Inhibitors / therapeutic use
  • Electric Stimulation
  • Electromyography / methods
  • Electrophysiology
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscles / metabolism
  • Muscles / ultrastructure
  • Muscular Dystrophies / drug therapy
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology*
  • Myopathies, Structural, Congenital / etiology
  • NADPH-Ferrihemoprotein Reductase / metabolism

Substances

  • Cholinesterase Inhibitors
  • NADPH-tetrazolium reductase
  • NADPH-Ferrihemoprotein Reductase