Charcot-Marie-Tooth disease type 2B5

Charcot-Marie-Tooth disease type 2B5 is a rare inherited nerve disorder that primarily affects the long nerves in the arms and legs. It is an axonal hereditary motor and sensory neuropathy that begins in infancy and causes slowly progressive muscle weakness and wasting. The weakness and muscle atrophy are most noticeable in the legs and are moderately present in the arms. In addition, there is a delay in reaching motor milestones in early childhood, along with low muscle tone, known as hypotonia. People with this condition also experience changes in the sensation at the farthest parts of the arms and legs. The loss of feeling or sensory impairment can affect several types of sensation. The description of the condition highlights that it impacts both the motor and sensory systems, which are essential for movement and touch. This overview is based on the current trusted definition and the identifiers provided by known sources.

Common symptoms of Charcot-Marie-Tooth disease type 2B5 include slowly progressive weakness and muscle wasting, particularly in the legs but also in the arms. There may also be delays in motor development along with low muscle tone (hypotonia). Many people with this condition experience reduced sensation in the farthest parts of the arms and legs, affecting all types of sensory modalities.

This condition is inherited and results from a genetic defect. The names and synonyms associated with the disease, such as SEOAN due to NEFL deficiency and autosomal recessive Charcot-Marie-Tooth disease type 2B5, suggest that a deficiency in the light neurofilament protein plays a role. However, detailed genetic information is limited in the provided sources.

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.