Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4G (CMT4G) is a rare genetic condition that affects the nerves in the arms and legs. It is part of the broader group of Charcot-Marie-Tooth diseases, and it usually begins in early childhood. In people with this condition, the nerves that control muscles and sensation gradually work less efficiently. As a result, there is a slow progression of muscle weakness, particularly in the hands and feet, as well as loss of muscle mass. This condition is most often seen in Balkan (Russe) Gypsies and is characterized by problems such as delayed motor development, reduced ability to sense touch in the extremities, and unusual responses in nerve signals. Foot and hand deformities are also common, making the condition noticeable. The information here comes from trusted resources that define the condition and provide identification numbers such as from OMIM, Orphanet, and GARD.

People with Charcot-Marie-Tooth disease type 4G often experience progressive weakness and wasting of the muscles in their arms and legs. They may have difficulties with activities that require strength and stability, such as running or lifting. Common signs include delayed motor development in childhood, loss of feeling in the hands and feet, and absent reflexes. There can also be abnormalities in the way nerves conduct electrical signals, which is seen as moderately reduced nerve conduction velocities. Additionally, the condition can cause foot and hand deformities.

This condition is caused by changes or mutations in the HK1 gene. The change in the gene interferes with normal nerve function, leading to the symptoms experienced by people with Charcot-Marie-Tooth disease type 4G. Being a genetic condition, it is inherited in an autosomal recessive pattern. This means that a person would need to inherit the affected gene from both parents to develop the disease.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.