Distal anoctaminopathy

Distal anoctaminopathy is a rare inherited muscle disease that primarily affects the muscles farthest from the center of the body, especially those in the lower legs and feet. It is caused by mutations in the ANO5 gene (also known as TMEM16E), which provides instructions for making a protein involved in muscle cell membrane repair. When this protein does not work properly, muscle fibers gradually break down over time. The disease typically begins in adulthood, often between the ages of 20 and 50. Early symptoms usually include difficulty walking, tripping, or weakness in the calves and feet. Over time, the weakness may spread to involve other muscles in the legs and sometimes the arms. Some people also experience elevated levels of creatine kinase (CK) in their blood, which is a marker of muscle damage. The rate of progression varies from person to person — some individuals remain relatively mildly affected for many years, while others may eventually need assistive devices for walking. There is currently no cure for distal anoctaminopathy. Treatment focuses on managing symptoms and maintaining function through physical therapy, assistive devices, and regular monitoring by a neuromuscular specialist. Research into potential therapies, including gene therapy approaches, is ongoing but still in early stages. The condition is also sometimes referred to as distal ANO5-related myopathy or Miyoshi-type distal myopathy caused by ANO5 mutations.

Bring these to your next appointment

• Q1.What is the expected rate of progression for my specific case?,What types of exercise are safe and beneficial for me?,Should my family members be tested for ANO5 mutations?,Are there any clinical trials or research studies I could participate in?,When should I consider using assistive devices like ankle braces or a cane?,How often should I have follow-up appointments and what tests will be done?,Are there any activities or medications I should avoid to protect my muscles?

Common questions about Distal anoctaminopathy