You are using an outdated browser. Please upgrade your browser to improve your experience.

neuropathy, hereditary motor and sensory, type 6A

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.
Uniprot Description An autosomal dominant neurologic disorder characterized by optic atrophy and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities.
Mondo Term and Equivalent IDs
MONDO:0011002:  neuropathy, hereditary motor and sensory, type 6A