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Limb girdle muscular dystrophy (LGMD)

Overview

LGMD is a diverse group of neuromuscular diseases presenting with weakness of proximal group of muscles like shoulder and pelvic girdle. There are many subtypes of LGMD with different patterns of muscle involvement and associated features. They are genetically determined with autosomal dominant or autosomal recessive pattern of inheritance. They progress slowly and symmetrically.

  • Genetic inheritance
  • Mutations in CAPN3, DYSF, and LGMD types 2I, 2K, 2M, and 2N genes

  • Weakness and atrophy of limb girdle muscles. Some muscles are selectively more involved, whereas others are spared
  • Waddling gait due to weakness of pelvic muscles
  • Trouble getting up from a chair or climbing stairs
  • Difficulty in lifting heavy objects especially over the head
  • Some types may be associated with cardiomyopathy, cardiac arrhythmia, respiratory muscle involvement
  • Joint stiffness and muscle cramps
  • Occasional involvement of distal muscles

Neurologist

  • Clinical history and examination
  • MRI of limb girdle to confirm the pattern of muscles involved
  • Muscle biopsy
  • Genetic testing that can reveal the disease type:
  • LGMD 1 (Autosomal dominant)- LGMD 1A, 1B, 1C, 1D, 1E, 1F, 1G, 1H
  • LGMD 2 (Autosomal recessive)- LGMD 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, 2I, 2J, 2K, 2L, 2M, 2N, 2O, 2P, 2Q, 2R, 2S, 2T, 2U, 2V, 2W, 2X, and 2Y

  • Physiotherapy and muscle strengthening exercises
  • Assistive devices and orthosis
  • Genetic counselling
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