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Neuropathy, hereditary motor and sensory, russe type(HMSNR)

MedGen UID:
343122
Concept ID:
C1854449
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth disease, autosomal recessive, type 4g; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G; HMSNR
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Charcot-Marie-Tooth disease type 4G (715799004); Hereditary motor and sensory neuropathy Russe type (715799004)
 
Gene (location): HK1 (10q22.1)
OMIM®: 605285
Orphanet: ORPHA99953

Definition

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 (summary by Sevilla et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400). [from OMIM]

Clinical features

Abnormality of the foot
MedGen UID:
8888
Concept ID:
C0016506
Anatomical Abnormality
An abnormality of the skeleton of foot.
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
An abnormality affecting one or both hands.
Distal muscle weakness
MedGen UID:
355271
Concept ID:
C1864696
Finding
Reduced strength of the musculature of the distal extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Neuropathy, hereditary motor and sensory, russe type in Orphanet.

Recent clinical studies

Etiology

Šafka Brožková D, Haberlová J, Mazanec R, Laštůvková J, Seeman P
Clin Genet 2016 Aug;90(2):161-5. Epub 2016 Mar 4 doi: 10.1111/cge.12745. PMID: 26822750

Diagnosis

Šafka Brožková D, Haberlová J, Mazanec R, Laštůvková J, Seeman P
Clin Genet 2016 Aug;90(2):161-5. Epub 2016 Mar 4 doi: 10.1111/cge.12745. PMID: 26822750
Gabrikova D, Mistrik M, Bernasovska J, Bozikova A, Behulova R, Tothova I, Macekova S
J Appl Genet 2013 Nov;54(4):455-60. Epub 2013 Aug 31 doi: 10.1007/s13353-013-0168-7. PMID: 23996628

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