Myopatien

Myopatien, also known as myopathies, refer to a group of diseases that primarily affect the skeletal muscles, leading to muscle weakness and dysfunction. These disorders can be acquired or inherited and often involve abnormalities in muscle structure, metabolism, or electrical activity.

Inherited myopathies include conditions such as muscular dystrophies, which are characterized by progressive muscle degeneration and weakness. Examples include Duchenne muscular dystrophy and Becker muscular dystrophy. Congenital myopathies are present from birth and typically involve structural abnormalities of muscle fibers, resulting in hypotonia and motor delays. Other inherited forms include metabolic myopathies, caused by enzyme deficiencies affecting muscle energy production.

Acquired myopathies may result from various factors, including inflammatory processes (myositis), drug or toxin exposure (e.g., statins), hormonal imbalances, and nutritional deficiencies. Myositis encompasses autoimmune conditions like polymyositis and dermatomyositis, distinguished by muscle inflammation and weakness.

Common symptoms of myopathies include proximal muscle weakness, muscle fatigue, and difficulty performing tasks requiring strength such as climbing stairs or lifting objects. The severity and progression can vary widely among different types.

Diagnosis typically involves a combination of clinical examination, laboratory tests (such as serum creatine kinase levels), electromyography (EMG), muscle biopsy, and genetic testing. Treatment strategies depend on the specific type of myopathy and may include physical therapy, medications to reduce inflammation, and supportive care to manage symptoms.

While some myopathies are progressive, early diagnosis and intervention can improve quality of life and functional outcomes. Ongoing research aims to better understand these conditions and develop targeted therapies.