Charcot-Marie-Tooth disease X-linked dominant 6

X-linked Charcot-Marie-Tooth disease type 6 is a rare genetic condition that affects the peripheral nerves. It is mainly an axonal peripheral sensorimotor neuropathy, meaning it impacts the nerves responsible for movement and sensation. The condition starts in childhood and typically shows a slow but progressive course. In people with this condition, there is moderate to severe muscle weakness and atrophy in the lower legs, which can affect walking and balance. People with this condition may also experience sensory changes, foot deformities such as high arches (pes cavus) and clawed toes, and abnormal gait patterns like steppage gait due to absent ankle reflexes. Females may have milder symptoms, sometimes only showing a slight hand tremor or minimal muscle wasting in the hands.

Common symptoms include slowly progressive muscle weakness and wasting, especially in the lower limbs. People may experience sensory abnormalities in their hands and feet, foot deformities such as pes cavus and claw toes, absent ankle reflexes, and walking difficulties including a steppage gait. Females typically have milder symptoms, which may include a mild hand tremor and slight muscle wasting.

The condition is caused by genetic changes and follows an X-linked dominant inheritance pattern. Changes in the PDK3 gene have been associated with this condition. This means that the condition is linked to one of the sex chromosomes, and the pattern of inheritance can lead to different levels of severity between females and males.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.