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X-linked distal hereditary motor neuropathy

MedGen UID:
1779850
•Concept ID:
C5548214
•
Disease or Syndrome
Synonyms: X-linked dHMN; X-linked distal spinal muscular atrophy
SNOMED CT: X-linked distal hereditary motor neuropathy (1156840002)
 
Orphanet: ORPHA404538

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked distal hereditary motor neuropathy

Professional guidelines

PubMed

Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M
Adv Exp Med Biol 2009;652:201-6. doi: 10.1007/978-90-481-2813-6_13. PMID: 20225027

Recent clinical studies

Etiology

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.
Perez-Siles G, Cutrupi A, Ellis M, Kuriakose J, La Fontaine S, Mao D, Uesugi M, Takata RI, Speck-Martins CE, Nicholson G, Kennerson ML
Dis Model Mech 2020 Jan 13;13(2) doi: 10.1242/dmm.041541. PMID: 31969342Free PMC Article
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY
Am J Hum Genet 2010 Mar 12;86(3):343-52. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.01.027. PMID: 20170900Free PMC Article

Diagnosis

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

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

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML
Metallomics 2016 Sep 1;8(9):981-92. Epub 2016 Jun 13 doi: 10.1039/c6mt00082g. PMID: 27293072Free PMC Article
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

Clinical prediction guides

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML
Metallomics 2016 Sep 1;8(9):981-92. Epub 2016 Jun 13 doi: 10.1039/c6mt00082g. PMID: 27293072Free PMC Article

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