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 those of Pompe disease

Signs and Symptoms

  • Signs and symptoms may first appear at any age, similar to Pompe disease
  • Severity of symptoms, age when symptoms appear, and features of LGMD can vary among the many subtypes of this condition
  • Symptoms generally worsen with time, although in some cases they may remain mild
  • Like Pompe disease, the muscles closest to the body’s midline are most affected; upper arms and upper legs
  • Some symptoms of LGMD are similar to those seen in Pompe disease:
    • Characteristic walking gait (e.g., waddling, walking on the balls of the feet, difficulty running, etc), especially in the early stages of the disease, and may progress to the requirement for wheelchair use
    • Weakness in thigh muscles that may cause difficulty standing up from a squatting position
    • Muscle wasting that can cause changes in posture (e.g., prominence of the shoulder blades [scapular winging], curvature of the spine, and joint contractures)

Diagnosis

  • Similar to Pompe disease, genetic testing is currently available for LGMD
  • Unlike Pompe disease, however, many different genes and inheritance patterns are possible in 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 LGMD. 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