What is Limb Girdle Muscular Dystrophy & How is it Treated?
What is Limb Girdle Muscular Dystrophy?
Limb-Girdle Muscular Dystrophy is not the name of a single disease entity but is a collection of disorders that affect the voluntary muscles of the body, especially the shoulders and hips. The muscles of both of these parts are extremely important in day to day functioning of an individual.
Limb-Girdle Muscular 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. Limb-Girdle Muscular Dystrophy gets its name since it is the shoulder and the hip girdle which gets affected maximally by this condition.
The proximal muscles meaning the muscles which are closest to the center of the body are affected first in Limb-Girdle Muscular Dystrophy followed by gradual weakness of the muscles distally which are much far from the center of the body. In a study conducted in 2011-12, there have been at least 20 subtypes identified of Limb-Girdle Muscular Dystrophy.
What are the Causes of Limb Girdle Muscular Dystrophy?
As stated, Limb-Girdle Muscular 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 Muscular 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 have Limb-Girdle Muscular Dystrophy.
What are the Symptoms of Limb Girdle Muscular Dystrophy?
There are a wide variety of clinical symptoms associated with Limb-Girdle Muscular Dystrophy. The most common symptoms of Limb-Girdle Muscular Dystrophy are progressive muscle wasting and weakness of the proximal muscles of the hip and shoulders.
Also affected due to Limb-Girdle Muscular 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 Muscular Dystrophy.
How is Limb Girdle Muscular Dystrophy Diagnosed?
In order to diagnose Limb-Girdle Muscular Dystrophy, there are a battery of tests that need to be conducted before arriving at a diagnosis of Limb-Girdle Muscular Dystrophy. 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, then specialized tests may be performed which may include a muscle biopsy to determine the status of the muscle fibers which will show abnormalities in cases of Limb-Girdle Muscular Dystrophy.
Next an EMG or electromyography test will be performed to look at the overall health of the muscles and nerves which will also show abnormality in cases of Limb-Girdle Muscular Dystrophy. 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 which is a sign that muscles are being badly damaged. All these tests will confirm the diagnosis of Limb-Girdle Muscular Dystrophy.
How is Limb Girdle Muscular Dystrophy Treated?
As of now there is no treatment for Limb-Girdle Muscular Dystrophy. The treatment is mainly supportive and symptomatic. Physical and occupational therapy is of great help in strengthening the muscles and prevention of contractions which is a common entity in Limb-Girdle Muscular Dystrophy.
Additionally, with the advancement of the disease condition and with the inability of the individual to ambulate normally, assistive devices in the form of a walker or a cane may be of help. Surgery may be an option to correct skeletal abnormalities like scoliosis and lordosis.
Close cardiac monitoring is also required to prevent any heart defect which can be a complication of Limb-Girdle Muscular Dystrophy. Patients can also contact support groups which are present all over the United States to help patients with Limb-Girdle Muscular Dystrophy.
What is the Prognosis of Limb-Girdle Muscular Dystrophy?
The overall prognosis of people with Limb-Girdle Muscular Dystrophy is not that good. The muscle weakness due to this condition gradually worsens to the point that the patient becomes completely disabled and is basically wheelchair bound within a span of a decade or two.
Cardiac abnormalities are also quite common in Limb-Girdle Muscular Dystrophy and the patient can succumb to one of those abnormalities. There have been many cases where patients have survived till adulthood but they tend to have an extremely poor quality of life and are basically dependent on others for almost all activities as a result of Limb-Girdle Muscular Dystrophy.