NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (HMSNR)

Question 1

What is  NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (HMSNR)?

Accepted Answer

very rare

autosomal recessive

mutation in the HK1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 605285

Question 3

Which enzymes are involved?

Accepted Answer

Hexokinase-1

Disease	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (HMSNR)
Synonym	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G; CMT4G; HK1
OMIM	605285 OMIM = Online Mendelian Inheritance of Men
Orphanet	99953
Protein (UniProt)	Hexokinase-1
ExPASy	2.7.1.1.
Gene locus	10q22.1
ICD	G60.0
Summary	very rare autosomal recessive mutation in the HK1 gene
Laboratory findings	no metabolic abnormalities ()
Symptoms	defect of walking, running, rising or climbing hand and/or feet deformities hyporeflexia muscle weakness Nerve conductive velocity, slow onset, adolescent onset, childhood scoliosis sensory disturbances