CMT Type 2 represents axonal forms of Charcot-Marie-Tooth disease that are dominantly inherited and make up about one-third of all dominant CMT cases. Patients with Type 2 have a wider age range for onset of the disorder and more variation in degree of disability.

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. Summary.

2021年11月19日 · Charcot-Marie-Tooth disease type 2 (CMT2) is a type of CMT whose genetic defects, or mutations, disrupt the structure and function of axons — the long projections of nerve cells that conduct signals to the next nerve cell or muscle cell.

The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy.

From OMIM Hereditary motor and sensory neuropathy type IIC (HMSN2C), also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal neuropathy with diaphragmatic and vocal cord paresis.

What is Charcot-Marie-Tooth disease type 2 (CMT2)? CMT type 2 (CMT2) is a subtype of CMT that is similar to CMT1 but is less common. CMT2 is typically inherited in an autosomal dominant pattern but in some cases can be inherited in an autosomal recessive pattern. 4,5,6 CMT2 represents 12% to 36% of all CMT cases. 7. What are the symptoms of CMT2?

AR-CMT (CMT 2B5): Severe, Early onset 78 Neurofilament light chain (NEFL) ; Chromosome 8p21.2; Recessive Epidemiology: Palestinian & Japanese families

CMT Type 2 represents axonal forms that are dominantly inherited and make up about one-third of all dominant CMT cases. The clinical presentation is similar to Type 1: distal weakness, muscle atrophy, sensory loss and foot deformities. Patients with Type 2 have a wider age range for onset of the disorder and more variation in degree of disability.

Charcot-Marie-Tooth disease, or CMT, is a genetic disease of the nervous system with many different causes that are divided into different types. Despite sharing similar symptoms, distinguishing the differences between CMT subtypes is crucial for doctors and scientists to design and deliver effective therapies.

Charcot-Marie-Tooth (CMT) disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known metabolic derangements.