Limb-girdle muscular dystrophy, how to diagnose and treat

With the development of medical technology, more and more rare diseases have emerged. Limb-girdle muscular dystrophy is one of them. Once we suffer from this disease, it is very likely to cause pelvic atrophy and other conditions, which will have a great impact on our walking. Do you know how to diagnose and treat this disease?

1. Diagnosis: Limb-girdle muscular dystrophy typically shows mixed degeneration/neogenesis and varying degrees of fibrosis in muscle biopsy, which is often associated with elevated serum creatine kinase concentrations. In men and women suspected of having limb-girdle muscular dystrophy, sex-linked forms of muscular dystrophy must first be excluded.

2. Biochemical testing (eg, immunostaining and immunoblotting for protein detection) can help to diagnose the disease, such as sarcoglycanopathy, distal myasthenia, myosin deficiency, or O-linked glycosylation deficiency (also known as dystroglycanopathy). In some cases, complete or partial loss of a specific protein can be confirmed by genetic testing. Currently, diagnosis is still mainly based on genetic testing. Currently, there are many laboratories abroad that provide multi-genome testing services for limb-girdle muscular dystrophy.

3. Treatment: There is currently no special treatment. Management should be tailored as much as possible to each patient and each specific subtype. The goals of treatment are to prolong life and improve quality of life. Approaches include weight control to avoid obesity, physical therapy and stretching exercises to promote mobility and avoid contractures, use of assistive drugs to aid walking and mobility, surgical intervention for orthopedic complications, use of respiratory assistance, monitoring for heart disease, and social and emotional support and encouragement.