A group of disorders that affect the voluntary muscles around the hips and shoulders is known as Limb-Girdle Muscular Dystrophy (or LGMD). This is a progressive disorder that leads to a loss of muscle strength and bulk over several years. It could occur in childhood, adolescence, young adulthood, or even later. Men and women are affected in equal numbers. Most types of Limb-Girdle Muscular Dystrophy is inherited in an autosomal recessive manner.

There are at least 20 known types of LGMD and making a diagnosis for this genetic or rare disease is often challenging. There is also no definitive treatment yet for Limb-Girdle Muscular Dystrophy, the American Academy of Neurology has developed some guidelines for the treatment of LGMD. The management of this disorder depends on each individual and the specific type of Limb-Girdle Muscular Dystrophy that the individual is suffering from.

Guidelines for treating LGMD are as follows:

  • Controlling weight to avoid obesity.
  • Stretching exercises and physical therapy which promote mobility and prevent the fixed tightening of muscles (contractures).
  • To help ambulation and mobility use of mechanical aids such as walkers, canes, orthotics, and wheelchairs are recommended.
  • Surgical intervention and monitoring as needed for an orthopedic complication that may arise such as a deformity of the foot and scoliosis.
  • Using respiratory aids to monitor respiratory function when needed.
  • Monitoring for evidence of cardiomyopathy in certain types of Limb-Girdle Muscular Dystrophy with known occurrences of cardiac involvement.
  • Weight monitoring is necessary, given the potential for issues of swallowing (dysphagia)
  • Use of nutritional supplements needs to be monitored.
  • To reduce the sense of social isolation common in such disorders, it is important to have social and emotional support and stimulation to maximize a sense of productivity and also social involvement.

1. It takes a healthcare team
To manage Limb-Girdle Muscular Dystrophy, a multidisciplinary team approach is recommended. An ideal team would include a neurologist, pulmonologist, cardiologist, orthopedic surgeon, psychiatrist, nutritionist, orthopedist, mental health counselors, genetic counselor and physical/occupational/ speech therapist.

2. Managing symptoms is key
As there is no treatment available yet for Limb-Girdle Muscular Dystrophy, the focus is given to managing it. To help connect with other patients and families, support and advocacy groups can help you provide valuable services. Such groups develop patient-centered information and are mostly the driving force behind research which helps in better treatment and possible cures. They help people to contact other research, resources, and services. Most organizations have experts who act as medical advisors or provide a list of doctors or clinics that could be useful. Some organizations supporting this disease are the Muscular Dystrophy Association (MDA) in Chicago and Muscular Dystrophy family foundation in Carmel. They provide financial assistance, quality programs, and services for the Muscular Dystrophy community in Indiana.

3. Gene therapy is emerging
Some studies have shown promising results with the use of gene therapy in treating limb-girdle muscular dystrophy, though currently, this treatment option is not available yet and more research is needed to prove the safety and benefit of this treatment for muscular dystrophy. The American Academy of Neurology which has the medical specialty society of neurologists offers a summary of recommended guidelines for a limb-girdle muscular dystrophy.