Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome is a rare, inherited condition that affects the nerves controlling movement. It is a demyelinating hereditary motor and sensory neuropathy that leads to early-onset, slowly progressive weakness and muscle atrophy, usually in the arms and legs. In addition to muscle weakness, people with this condition experience congenital sensorineural deafness and mild intellectual disability with absent normal speech development. A key finding in this condition is the absence of large myelinated fibers on a sural nerve biopsy, which helps in confirming the diagnosis.

Common symptoms include early-onset, slowly progressive weakness and atrophy in the distal muscles of the arms and legs. Another key feature is congenital sensorineural deafness. There is also mild intellectual disability, particularly characterized by a lack of normal speech development. Notably, despite the motor issues, sensory impairment is typically not observed.

This condition is hereditary, meaning that it is passed down in families. It is classified as a demyelinating form of hereditary motor and sensory neuropathy. However, detailed information about specific genetic mutations or risk factors is not provided in the available sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. The disease is described as slowly progressive, and its impact on quality of life varies among affected individuals.

Information about research is currently limited for this condition. Ongoing studies may aim to better understand the genetic causes and the underlying mechanisms of the neuropathy.