Limb-girdle muscular dystrophy result of mutations in many different genes with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders.
LGMD-2A is one of the most common forms of LGMD. It is caused by mutations in the calpain 3 gene, which gives instructions to produce a protein important to the muscle fibres.
The diagnosis can be suspected by findings on a muscle biopsy. A serum creatine kinase (CK) blood test may also show raised levels which indicate a problem in the muscles. The diagnosis has to be confirmed by identifying a mutation in the calpain 3 gene which is done on a DNA sample from a blood test.
People with LGMD2A often have initial symptoms of weakness and wasting (loss of muscle bulk) in the hip, thigh and shoulder muscles. This weakness is usually even on both sides of the body and leg involvement is present before shoulder and arms. This can result in frequent falls, difficulty in running, climbing stairs and rising from the floor. As the condition progresses, people can have problems with walking.
Shoulder and arm weakness can lead to difficulties in raising the arms above the head, and shoulder blade winging may be present (scapular winging). Some people complain of muscle pain, especially in the legs. Joint contractures (tightening) may be present and more frequently involve the ankles.
Diagnosis of LGMDs, along with their subtypes, requires a comprehensive series of clinical examinations including CPK testing followed by genetic testing via Next Generation Sequencing (NGS) technology of DNA extracted from blood samples of Muscular Dystrophy afflicts. Unless whole-genome tests are carried out using NGS, LGMDs are very difficult to diagnose. Also, these diagnostic tests are not affordable by the common man. They cost anywhere between Rs. 40,000-50,000. All across India, there are just 5-6 laboratories offering these tests. In the diagnostic workup of suspected LGMD in India, after biochemistry and electrophysiology tests, muscle biopsy is often performed. In fact, due to the complexity of LGMD genetics, it seems to have lagged behind other common neuromuscular disorders.
Keeping mobile & prevention of further damage is important in treatment of muscular dystrophy. Ayurvedic Rasayana medicines, TMP therapy is efficient to protect your muscles, heart and lungs from further damage due to muscular dystrophy. Tightening of the joint (Joint contractures) is a major issue in LGMD2A and therefore regular physiotherapy along with yogic deep breathing is recommended. Regular stretching of all joints, particularly the ankles, knees and elbows are important.
With progression of the muscle weakness, people with LGMD2A are at risk of developing breathing difficulties. Therefore regular monitoring of respiratory function is recommended.
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