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Autosomal recessive distal hereditary motor neuropathy

MedGen UID:
1779821
•Concept ID:
C5548369
•
Disease or Syndrome
Synonyms: Autosomal recessive dHMN; autosomal recessive dHMN; autosomal recessive distal hereditary motor neuropathy; autosomal recessive distal spinal muscular atrophy; Autosomal recessive distal spinal muscular atrophy; Autosomal recessive dSMA; autosomal recessive dSMA; distal hereditary motor neuropathy, autosomal recessive
SNOMED CT: Autosomal recessive distal hereditary motor neuropathy (1156850001)
 
Monarch Initiative: MONDO:0015363
Orphanet: ORPHA140468

Definition

Autosomal recessive form of distal hereditary motor neuropathy. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal recessive distal hereditary motor neuropathy

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: 32123965
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

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Hereditary motor neuropathies.
Frasquet M, Sevilla T
Curr Opin Neurol 2022 Oct 1;35(5):562-570. Epub 2022 Aug 8 doi: 10.1097/WCO.0000000000001087. PMID: 35942667
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385
Diagnosis of Charcot-Marie-Tooth disease.
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V
J Biomed Biotechnol 2009;2009:985415. Epub 2009 Oct 8 doi: 10.1155/2009/985415. PMID: 19826499Free PMC Article
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739

Diagnosis

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Hereditary motor neuropathies.
Frasquet M, Sevilla T
Curr Opin Neurol 2022 Oct 1;35(5):562-570. Epub 2022 Aug 8 doi: 10.1097/WCO.0000000000001087. PMID: 35942667
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739

Therapy

Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Prognosis

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Alluqmani M, Basit S
BMC Med Genomics 2022 Apr 18;15(1):88. doi: 10.1186/s12920-022-01238-4. PMID: 35436891Free PMC Article
Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.
Nandhagopal R, Meftah D, Al-Kalbani S, Scott P
Eur J Neurol 2018 Feb;25(2):395-403. Epub 2017 Dec 12 doi: 10.1111/ene.13519. PMID: 29115704
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739

Clinical prediction guides

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Alluqmani M, Basit S
BMC Med Genomics 2022 Apr 18;15(1):88. doi: 10.1186/s12920-022-01238-4. PMID: 35436891Free PMC Article
Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.
Nandhagopal R, Meftah D, Al-Kalbani S, Scott P
Eur J Neurol 2018 Feb;25(2):395-403. Epub 2017 Dec 12 doi: 10.1111/ene.13519. PMID: 29115704
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J
Neurology 2014 Nov 4;83(19):1726-32. Epub 2014 Oct 1 doi: 10.1212/WNL.0000000000000966. PMID: 25274842
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.
Hahn AF
Brain Pathol 1993 Apr;3(2):147-55. doi: 10.1111/j.1750-3639.1993.tb00739.x. PMID: 8293176

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