Hereditary motor and sensory neuropathy type V (HMSN type V), also known as Charcot-Marie-Tooth disease type 2E (CMT2E), is a rare inherited peripheral neuropathy. It belongs to the broader group of hereditary motor and sensory neuropathies, which are characterized by progressive damage and degeneration of peripheral nerves, leading to muscle weakness, loss of sensation, and various other symptoms.
HMSN type V is caused by mutations in the neurofilament heavy polypeptide (NEFH) gene, which encodes a protein essential for the normal structure and functioning of nerve cells. These mutations disrupt the assembly and stability of neurofilaments, leading to the accumulation of abnormal filaments and subsequent damage to peripheral nerves.
Affected individuals typically experience progressive muscle weakness and atrophy, primarily in the legs and feet. Other common symptoms include sensory loss, such as decreased ability to feel pain, temperature changes, or touch, and impaired coordination. Onset can occur in childhood or adulthood, with severity and progression varying among individuals.
Diagnosis of HMSN type V involves a comprehensive evaluation of symptoms, family history, and various diagnostic tests, including nerve conduction studies and genetic testing. Currently, there is no specific cure for HMSN type V, and treatment mainly focuses on managing symptoms and maximizing patients' quality of life. Physical therapy, assistive devices, and pain management strategies may be employed to alleviate muscle weakness, improve mobility, and address associated complications.
Overall, HMSN type V is a rare genetic disorder characterized by progressive muscle weakness, sensory loss, and impaired coordination, resulting from mutations in the NEFH gene.
