KLHL9-related early-onset distal myopathy

KLHL9-related early-onset distal myopathy is a rare genetic condition that affects the muscles, particularly those in the distal parts of the limbs. It is marked by slowly progressive weakness and wasting of the muscles, starting in the lower leg (anterior tibial muscles) and later affecting the muscles in the hands. In addition to muscle weakness, there is reduced sensation in a pattern that affects the hands and feet, commonly described as a stocking-glove distribution. People with this condition may present with a high stepping gait, a reduced reflex (areflexia) at the ankles, and contractures during the first to second decade of life. There is marked muscle wasting of the ankle extensors, and later, only moderate involvement of the proximal muscles is observed, with ambulation typically preserved throughout life.

Common symptoms include slowly progressive muscle weakness and atrophy that begins in the legs, particularly the front part of the lower leg, and later affects the hands. Reduced sensation in the hands and feet, a high stepping gait, decreased ankle reflexes, and contractures are also noted. There is marked wasting of the ankle extensor muscles.

This condition is inherited and is linked to genetic factors, as indicated by its description as a genetic distal myopathy. Detailed genetic causes and risk factors are not provided in the available information.

Information about treatment is currently limited for this condition.

According to available information, while the early stages of the condition involve significant distal muscle atrophy and weakness, later involvement of the proximal muscles is moderate. Ambulation is generally preserved throughout life, suggesting that while the condition affects muscle strength, many people with this condition can maintain mobility.

Information about ongoing research or potential future directions is currently limited for this condition.