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Distal hereditary motor neuropathy type 2

MedGen UID:
777992
•Concept ID:
C3711384
•
Disease or Syndrome
Synonym: Distal Hereditary Motor Neuropathy, Type II
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015352
Orphanet: ORPHA139525

Definition

A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Distal hereditary motor neuropathy type 2

Professional guidelines

PubMed

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Perego MGL, Galli N, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S
Cell Mol Life Sci 2020 Sep;77(17):3351-3367. Epub 2020 Mar 2 doi: 10.1007/s00018-020-03492-0. PMID: 32123965Free PMC Article
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251

Recent clinical studies

Etiology

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Greenbaum L, Ben-David M, Nikitin V, Gera O, Barel O, Hersalis-Eldar A, Shamash J, Shimshoviz N, Reznik-Wolf H, Shohat M, Dominissini D, Pras E, Dori A
Ann Clin Transl Neurol 2021 Jun;8(6):1260-1268. Epub 2021 May 11 doi: 10.1002/acn3.51362. PMID: 33973728Free PMC Article

Diagnosis

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Greenbaum L, Ben-David M, Nikitin V, Gera O, Barel O, Hersalis-Eldar A, Shamash J, Shimshoviz N, Reznik-Wolf H, Shohat M, Dominissini D, Pras E, Dori A
Ann Clin Transl Neurol 2021 Jun;8(6):1260-1268. Epub 2021 May 11 doi: 10.1002/acn3.51362. PMID: 33973728Free PMC Article

Therapy

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK, Renusch SR, Naiman NE, Gu S, Sneh A, Arnold WD, Sahenk Z, Kolb SJ
Neurobiol Dis 2012 Aug;47(2):163-73. Epub 2012 Apr 11 doi: 10.1016/j.nbd.2012.03.035. PMID: 22521462Free PMC Article

Prognosis

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Greenbaum L, Ben-David M, Nikitin V, Gera O, Barel O, Hersalis-Eldar A, Shamash J, Shimshoviz N, Reznik-Wolf H, Shohat M, Dominissini D, Pras E, Dori A
Ann Clin Transl Neurol 2021 Jun;8(6):1260-1268. Epub 2021 May 11 doi: 10.1002/acn3.51362. PMID: 33973728Free PMC Article

Clinical prediction guides

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK, Renusch SR, Naiman NE, Gu S, Sneh A, Arnold WD, Sahenk Z, Kolb SJ
Neurobiol Dis 2012 Aug;47(2):163-73. Epub 2012 Apr 11 doi: 10.1016/j.nbd.2012.03.035. PMID: 22521462Free PMC Article

Recent systematic reviews

A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.
Taga A, Cornblath DR
J Peripher Nerv Syst 2020 Sep;25(3):223-229. Epub 2020 Jul 8 doi: 10.1111/jns.12395. PMID: 32639100

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