Congenital myasthenic syndrome

From WikiMD.org
Jump to navigation Jump to search

Congenital Myasthenic Syndrome

Congenital myasthenic syndrome (CMS) is a group of inherited neuromuscular disorders. Pronounced as kuhn-JEN-uh-tuhl my-uh-STHEE-nik SIN-drohm, it is characterized by muscle weakness that worsens with physical activity and improves with rest.

Etymology

The term "congenital" is derived from the Latin word "congenitus," meaning "born with." "Myasthenic" comes from the Greek words "myasthenia," meaning "muscle weakness," and "syndrome" is from the Greek word "syndromos," meaning "running together," referring to the group of symptoms that occur together.

Symptoms

The primary symptom of CMS is muscle weakness, which can affect any muscle group. The severity and onset of symptoms can vary widely among affected individuals. Some people may have symptoms from birth, while others may not develop symptoms until later in life.

Causes

CMS is caused by mutations in genes that are involved in the transmission of signals from nerves to muscles, a process known as neuromuscular junction transmission. These mutations lead to a disruption in this process, resulting in muscle weakness.

Diagnosis

Diagnosis of CMS typically involves a combination of clinical examination, family history, and specialized tests such as electromyography (EMG) and genetic testing.

Treatment

Treatment for CMS is focused on managing symptoms and improving quality of life. This may involve medications to improve neuromuscular transmission, physical therapy, and in some cases, surgery.

Related Terms

See Also

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski