X-linked myotubular myopathy

X-linked myotubular myopathy (pronounced eks-linked my-oh-too-bu-lar my-op-uh-thee) is a severe genetic disorder that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males.

Etymology

The term "X-linked" refers to the X chromosome, where the mutation causing the disorder is located. "Myotubular" is derived from the Greek words "myo" meaning muscle and "tubule" meaning small tube, referring to the tube-like appearance of muscle cells in affected individuals. "Myopathy" comes from the Greek words "myo" meaning muscle and "pathy" meaning disease.

Definition

X-linked myotubular myopathy is characterized by muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. The condition is caused by mutations in the MTM1 gene, which provides instructions for producing an enzyme called myotubularin.

Symptoms

The most common symptoms include severe muscle weakness, problems with movement and balance, and difficulties with breathing. Some affected individuals may also have skeletal abnormalities, such as an unusually large range of joint movement (hypermobility) or abnormal curvature of the spine (scoliosis).

Diagnosis

Diagnosis of X-linked myotubular myopathy is based on the clinical symptoms, a detailed patient history, and specialized tests. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for X-linked myotubular myopathy. Treatment is supportive and aims to improve the quality of life. This may include physical therapy, respiratory support, and management of other medical complications.

Related Terms

• Genetic disorder
• X chromosome
• MTM1
• Myopathy
• Hypotonia
• Scoliosis
• Hypermobility

External links

• Medical encyclopedia article on X-linked myotubular myopathy
• Wikipedia's article - X-linked myotubular myopathy

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