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Hereditary sensory neuropathy X-linked

MedGen UID:
333359
•Concept ID:
C1839602
•
Disease or Syndrome
Synonym: Neuropathy, Hereditary Sensory, X-Linked
 
Monarch Initiative: MONDO:0010688
OMIM®: 310470

Definition

A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. [from MONDO]

Clinical features

From HPO
Sensory neuropathy
MedGen UID:
101791
•Concept ID:
C0151313
•
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
See: Feature record | Search on this feature
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
•Concept ID:
C1858285
•
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
See: Feature record | Search on this feature

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
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622

Recent clinical studies

Etiology

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network
Brain 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. PMID: 37284795Free PMC Article
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
Inherited peripheral neuropathy.
Keller MP, Chance PF
Semin Neurol 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. PMID: 10716658

Diagnosis

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
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
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
Ouvrier R, Geevasingha N, Ryan MM
Muscle Nerve 2007 Aug;36(2):131-43. doi: 10.1002/mus.20776. PMID: 17410579

Therapy

Small amounts of functional ATP7A protein permit mild phenotype.
Møller LB
J Trace Elem Med Biol 2015;31:173-7. Epub 2014 Aug 8 doi: 10.1016/j.jtemb.2014.07.022. PMID: 25172213
Coexistent hereditary and inflammatory neuropathy.
Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH
Brain 2004 Jan;127(Pt 1):193-202. Epub 2003 Nov 7 doi: 10.1093/brain/awh017. PMID: 14607795
Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease).
Antonini G, Gragnani F, Romaniello A, Pennisi EM, Morino S, Ceschin V, Santoro L, Cruccu G
Muscle Nerve 2000 Feb;23(2):252-8. doi: 10.1002/(sici)1097-4598(200002)23:2<252::aid-mus17>3.0.co;2-p. PMID: 10639619
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.
Harding AE
Brain 1995 Jun;118 ( Pt 3):809-18. doi: 10.1093/brain/118.3.809. PMID: 7541290

Prognosis

The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.
Mancuso M, Orsucci D, Siciliano G, Bonuccelli U
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S528-41. doi: 10.1007/s00415-014-7387-7. PMID: 25145890Free PMC Article
Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
Pareyson D, Marchesi C, Salsano E
Handb Clin Neurol 2013;115:817-45. doi: 10.1016/B978-0-444-52902-2.00047-3. PMID: 23931817
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 and electrophysiological aspects of Charcot-Marie-Tooth disease.
Pareyson D, Scaioli V, Laurà M
Neuromolecular Med 2006;8(1-2):3-22. doi: 10.1385/nmm:8:1-2:3. PMID: 16775364
Coexistent hereditary and inflammatory neuropathy.
Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH
Brain 2004 Jan;127(Pt 1):193-202. Epub 2003 Nov 7 doi: 10.1093/brain/awh017. PMID: 14607795

Clinical prediction guides

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network
Brain 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. PMID: 37284795Free PMC Article
Small amounts of functional ATP7A protein permit mild phenotype.
Møller LB
J Trace Elem Med Biol 2015;31:173-7. Epub 2014 Aug 8 doi: 10.1016/j.jtemb.2014.07.022. PMID: 25172213
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
Genetic and phenotypic variability of optic neuropathies.
Neuhann T, Rautenstrauss B
Expert Rev Neurother 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. PMID: 23545052
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
Ouvrier R, Geevasingha N, Ryan MM
Muscle Nerve 2007 Aug;36(2):131-43. doi: 10.1002/mus.20776. PMID: 17410579

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