Hereditary Neuropathy_CMT - isolated

Gene: HK1

Green List (high evidence)

HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.

Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.

Note gene is associated with other phenotypes.

Created: 4 May 2021, 5:21 a.m. | Last Modified: 4 May 2021, 5:21 a.m.

Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, Russe type , MIM#605285

Publications

• 19536174