Limb-Girdle
Muscular
Dystrophy

Muscle Weakness Abnormal Gait or Difficulty Walking Elevated Creatine Kinase Respiratory Insufficiency Difficulty Swallowing Exercise Intolerance
Limb-Girdle
Muscular Dystrophy
0.8-6.9 per 100,000
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Pompe disease
2.5 per 100,000
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Overview

  • Limb-girdle muscular dystrophy (LGMD) describes a group of diseases that cause weakness and wasting of the muscles in the arms and legs
  • Many signs and symptoms of LGMD can overlap with Pompe disease

Signs and Symptoms

  • Signs and symptoms of LGMD may first appear at any age, as observed in Pompe disease
  • Severity, age of onset, and features of LGMD vary among the many subtypes of this condition
  • Symptoms generally worsen with time, although in some cases they may remain mild
  • Similar to Pompe disease, the proximal musculature is most affected
  • LGMD also shares these same possible symptoms of Pompe disease:
    • Distinctive walking gait (eg, waddling, walking on the balls of the feet, difficulty running, etc), generally seen in the early stages of the disease, which may progress to the requirement for wheelchair assistance
    • Weakness in thigh muscles that may cause difficulty standing up from a squatting position (Gower’s sign)
    • Muscle wasting that can cause changes in posture (e.g., “scapular winging,” spine curvature, joint contractures)

Diagnosis

  • Similar to Pompe disease, genetic testing is currently available for LGMD
  • LGMD differs from Pompe, however, as many different genes and inheritance patterns are possible and dictate the subtype of LGMD
  • On the path to an LGMD diagnosis, clinicians may use the same tools as those used in the diagnostic pathway of Pompe disease such as muscle biopsy and laboratory testing (e.g., creatine kinase)

The information presented is intended as a brief overview. It is not an exhaustive summary of limb-girdle muscular dystrophy. For more information on LGMD, visit:
https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy#diagnosis

For more information on the diagnosis of Pompe disease, visit Diagnosis of Infantile-Onset Pompe Disease and Diagnosis of Late-Onset Pompe Disease