Limb-girdle muscular dystrophy



What is Limb-girdle musculard dystrophy?

Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area).

Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. The proximal muscles-the muscles which are closest to the center of the body, are affected first and followed by gradual weakness of the muscles distally which are much far from the center of the body. Limb-girdle musculard dystrophy gets its name since it is the shoulder and the hip girdle which gets affected maximally by this condition.

Limb-girdle musculard dystrophy is believed to be caused by supposedly more than 15 genes which are responsible for making proteins used for adequate functioning of the muscles. Many different subtypes have been identified based upon abnormal changes (mutations) of certain genes. In a study conducted in 2011-12, there have been at least 20 subtypes identified of Limb-girdle musculard dystrophy.

How common is Limb-girdle musculard dystrophy?

LGMD affects males and females in equal numbers. The incidence of the disorder is unknown. The prevalence of LGMD is unknown, but estimates range from one in 14,500 to one in 123,000.Please discuss with your doctor for further information.


What are the symptoms of Limb-girdle musculard dystrophy?

There are a wide variety of clinical symptoms associated with Limb-girdle musculard dystrophy. The most common symptoms of Limb-girdle musculard dystrophy are progressive muscle wasting and weakness of the proximal muscles of the hip and shoulders.

Also affected due to Limb-girdle musculard dystrophy are muscles of the arms and legs as they also are close to the center of the body. This muscle weakness gradually spreads to encompass the distal muscles of the body as well to include the lower part of the arms and legs including the feet as well.

Due to weakness of the muscles of the hips and pelvis region, it becomes difficult for the affected individual to go from sitting to standing position or negotiating stairs. As the condition progresses, the ambulation abilities of the affected individual get impaired and the gait becomes more of a waddling type gait pattern.

Gradually, the muscles of the upper arms start to feel weak and it becomes difficult for the individual to lift or carry objects. The individual may also have significant pain associated with muscle weakness due to Limb-girdle musculard dystrophy.

Scoliosis and lordosis are some of the skeletal abnormalities associated with Limb-girdle musculard dystrophy. Cardiomyopathy is another symptom that may arise due to Limb-girdle musculard dystrophy.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Limb-girdle musculard dystrophy?

Limb-girdle musculard dystrophy is caused by mutations of at least 15 different genes which are responsible for making proteins required for adequate functioning of muscles of the body, especially the hip and shoulders. Limb-girdle musculard dystrophy exists both as an autosomal recessive as well as autosomal dominant trait meaning that either one copy from each parent or a single copy for any parent of the faulty gene is good enough for an individual to get the condition.

Risk factors

What increases my risk for Limb-girdle musculard dystrophy?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Limb-girdle musculard dystrophy diagnosed?

To diagnose Limb-Girdle Muscular Dystrophy, there are a battery of tests that need to be conducted. The diagnosis begins with taking the history of the patient first determining as to when the symptoms started, which muscles first started to feel weak, and also whether the patient has another family member with a known diagnosis of Limb-Girdle Muscular Dystrophy.

The physician may next perform a thorough clinical evaluation assessing the strength of the affected muscles. Once Limb-Girdle Muscular Dystrophy is suspected, specialized tests may be performed which may include a muscle biopsy to determine the status of the muscle fibers by revealing any possible abnormalities.

Next an EMG or electromyography test will be performed to look at the overall health of the muscles and nerves. Immunochemistry and molecular genetic testing are some of the other tests that may be performed to confirm the diagnosis of Limb-Girdle Muscular Dystrophy.

Additionally, a blood test may be done which will show elevated levels of creatine kinase- the sign that muscles are being badly damaged.

How is Limb-girdle musculard dystrophy treated?

No cure exists for any form of LGMD. Treatment is aimed at the specific symptoms present in each individual. Specific treatment options may include physical and occupational therapy to improve muscle strength and prevent contractures; the use of various devices (e.g., canes, braces, walkers, wheelchairs) to assist with walking (ambulation) and mobility; surgery to correct skeletal abnormalities such as scoliosis; and regular monitoring of the heart and the respiratory system for the development of such complications potentially associated with some forms of LGMD.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive. Patients should be provided with contact details for the relevant patient organizations and registries.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Limb-girdle musculard dystrophy?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: February 5, 2018 | Last Modified: February 5, 2018