Congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a group of inherited neuromuscular disorders characterized by muscle weakness that worsens with physical activity. The term "congenital" refers to a condition that is present from birth.

Symptoms

The symptoms of CMS typically appear in infancy or early childhood, although they can emerge later in life. These symptoms can vary widely in severity, from mild to life-threatening. Common symptoms include fatigue, muscle weakness, and difficulty with physical activities such as walking or lifting objects. In severe cases, individuals may experience difficulty breathing or swallowing, which can lead to life-threatening complications.

Causes

CMS is caused by mutations in genes that are involved in the transmission of signals from nerves to muscles. These mutations disrupt the normal function of neuromuscular junctions, which are the places where nerves connect with muscles to control their movement. As a result, the muscles do not respond properly to signals from the nerves, leading to the symptoms of CMS.

Diagnosis

Diagnosis of CMS typically involves a combination of clinical examination, family history, and specialized tests. These tests may include electromyography (EMG), which measures the electrical activity of muscles, and genetic testing to identify the specific gene mutation causing the condition.

Treatment

While there is currently no cure for CMS, treatment can often help to manage symptoms and improve quality of life. Treatment options may include medications to improve nerve-to-muscle signal transmission, physical therapy to strengthen muscles, and supportive care to manage complications.

Prognosis

The prognosis for individuals with CMS varies widely, depending on the specific gene mutation and the severity of symptoms. With appropriate treatment and management, many individuals with CMS can lead active, fulfilling lives.

See also

• Neuromuscular disease
• Genetic disorder
• Muscular dystrophy

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