myopatia

Myopatia, commonly known as myopathy, refers to a group of diseases characterized by primary skeletal muscle dysfunction. These conditions lead to muscle weakness, fatigue, and, in some cases, muscle atrophy, without involving the nerves or other tissues. Myopathies can be congenital or acquired and may vary in severity and presentation.

Congenital myopathies are present at birth or manifest early in childhood and are often caused by genetic mutations affecting muscle structure or function. Acquired myopathies, on the other hand, can result from various factors including inflammatory processes (myositis), metabolic disorders, drug toxicity (such as from statins), endocrine abnormalities, or other systemic diseases.

Common symptoms include proximal muscle weakness, difficulty performing movements that require muscle strength such as climbing stairs or lifting objects, and in certain cases, muscle cramps and myalgia. The diagnosis typically involves clinical examination, blood tests (notably elevated creatine kinase levels), electromyography, muscle biopsy, and genetic testing.

Treatment of myopathies depends on the underlying cause. While some genetic myopathies have no cure, management strategies aim to improve muscle strength and function, including physical therapy, respiratory support, and addressing specific metabolic or inflammatory causes. Medications such as immunosuppressants may be used in inflammatory myopathies, and avoiding toxin exposure is crucial in drug-induced cases.

Prognosis varies widely among different types of myopathies. Early diagnosis and appropriate management can significantly improve quality of life for affected individuals, although some forms may lead to progressive muscle weakness and disability over time.