Charcot-Marie-Tooth disease axonal type 2K

Charcot-Marie-Tooth disease axonal type 2K is a severe, early-onset condition that affects the peripheral nerves. It is a form of axonal peripheral sensorimotor polyneuropathy, meaning that the nerves that help control movement and sensation are affected. This condition is inherited in an autosomal recessive manner and is linked to changes in the GDAP1 gene. It is sometimes associated with hoarseness, which is noted in its alternative names. Information about the full clinical picture is currently limited for this condition.

People with this condition may experience problems related to their peripheral nerves. These issues can include muscle weakness, reduced sensation in the limbs, and difficulties with movement. Hoarseness in the voice has also been noted as part of the condition. Overall, the details about the range and severity of symptoms are not fully described in the available information.

This condition is caused by changes in the GDAP1 gene. It is inherited in an autosomal recessive pattern, which means that two copies of a changed gene are needed for the condition to occur. This genetic factor is the primary known cause based on the available sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

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