Congenital myasthenic syndrome
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
- Medical encyclopedia article on Congenital myasthenic syndrome
- Wikipedia's article - Congenital myasthenic syndrome
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