myopátiákban

Myopathies refer to diseases of the muscles. They are a group of disorders that affect the voluntary muscles, leading to weakness, pain, and sometimes atrophy. These conditions can be inherited or acquired.

Inherited myopathies are often caused by genetic mutations that affect the structure or function of muscle fibers. Examples include muscular dystrophies, such as Duchenne and Becker muscular dystrophy, and congenital myopathies, which are present at birth. Spinal muscular atrophy, while affecting motor neurons, is often discussed alongside myopathies due to its impact on muscle function.

Acquired myopathies can develop later in life and are not directly inherited. Causes include inflammatory conditions like polymyositis and dermatomyositis, metabolic disorders, endocrine problems, and certain medications or toxins. Myasthenia gravis, an autoimmune disorder affecting the neuromuscular junction, is also a form of acquired myopathy.

Symptoms vary widely depending on the specific type of myopathy but commonly include progressive muscle weakness, fatigue, muscle cramps, and difficulty with everyday activities like walking, climbing stairs, or lifting objects. In some cases, the heart muscle or respiratory muscles can also be affected, leading to more severe complications.

Diagnosis typically involves a thorough medical history, physical examination, blood tests to check for muscle enzymes, nerve conduction studies, electromyography (EMG) to assess muscle electrical activity, and muscle biopsy to examine muscle tissue. Genetic testing is often crucial for inherited forms.

Treatment approaches focus on managing symptoms, slowing disease progression, and improving quality of life. This may include physical therapy to maintain muscle strength and flexibility, occupational therapy for adaptive strategies, medications to reduce inflammation or improve neuromuscular transmission, and in some cases, gene therapy or other advanced treatments.