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Limb Girdle Muscular Dystrophy (LGMD)

Overview

Limb girdle muscular dystrophy (LGMD) refers to a diverse group of genetic neuromuscular diseases presenting with the weakness of the proximal group of muscles, such as those in the shoulder and pelvic girdle. There are many subtypes of LGMD with different patterns of muscle involvement and associated features. They progress slowly and symmetrically.

Based on the inheritance pattern, LGMD is classified into the following types:

  • LGMD1: Autosomal dominant inheritance pattern, i.e., one copy of the abnormal gene (from either the mother or the father) is sufficient to cause the disease.
  • LGMD2: Autosomal recessive inheritance pattern, i.e., both copies of the abnormal gene (from both the mother and the father) are needed to cause the disease.

LGMD is associated with the following symptoms:

  • Weakness and atrophy of limb girdle muscles; some specific muscles are selectively involved
  • 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
  • Cardiomyopathy, cardiac arrhythmia, and respiratory muscle involvement (rare symptoms)
  • Joint stiffness and muscle cramps
  • Occasional involvement of distal muscles

  • Genetic inheritance
  • Mutations in the CAPN3, DYSF, and/or sarcoglycan genes (SGCA, SGCB, SGCD, and SGCG)

LGMD is often diagnosed based on the following:

  • Clinical history and examination
  • MRI of the limb girdle to confirm the muscle involvement pattern
  • Muscle biopsy
  • Genetic testing to reveal the disease type:
    • LGMD1: LGMD 1A, 1B, 1C, 1D, 1E, 1F, 1G, 1H
    • LGMD2: 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

While there is no definitive cure for LGMD, specific treatment methods aimed at managing symptoms and preventing further complications are recommended: 

  • Physiotherapy and muscle strengthening exercises
  • Assistive devices to help with movement as the weakness increases
  • Genetic counselling 

Patients are advised to visit their doctor when they notice a waddling gait or weakness in their limb girdle muscles.

It is not possible to prevent the occurrence of LGMD; nevertheless, proactive genetic testing and counselling can help detect this condition in a timely manner.

Patients diagnosed with or suspected of having LGMD are advised to visit a Neurologist (specialist in brain disorders) or Neurosurgeon (if surgical intervention is needed) and a Genetic Counsellor (for awareness and precautionary measures regarding the detected type of LGMD).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.