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Hereditary motor and sensory neuropathy

MedGen UID:: 45066
•Concept ID:: C0027888
•: Disease or Syndrome

Synonyms:	Herditary Sensory and Motor Neuropathy; Hereditary Motor and Sensory Neuropathies; Hereditary Motor and Sensory Neuropathy; Hereditary Sensory and Motor Neuropathy; HMSN; Neuropathies, Hereditary Motor and Sensory
SNOMED CT:	Hereditary motor and sensory neuropathy (398100001); Hereditary sensory and motor neuropathy (398100001); Hereditary sensory-motor neuropathy (398100001); Hereditary sensorimotor neuropathy (398100001); CMT - Charcot-Marie-Tooth disease (398100001); HMSN - hereditary motor and sensory neuropathy (398100001); HSMN - hereditary sensory and motor neuropathy (398100001)

Monarch Initiative:	MONDO:0015358

Definition

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) [from MONDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary motor and sensory neuropathy

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Hereditary motor and sensory neuropathy
        Alstrom syndrome
        Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease axonal type 2K
        Charcot-Marie-Tooth disease dominant intermediate C
        Charcot-Marie-Tooth disease dominant intermediate E
        Charcot-Marie-Tooth disease dominant intermediate F
        Charcot-Marie-Tooth disease type 2
        Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
        Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
        Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
        Autosomal dominant Charcot-Marie-Tooth disease type 2K
        Autosomal dominant Charcot-Marie-Tooth disease type 2M
        Autosomal dominant Charcot-Marie-Tooth disease type 2W
        Charcot-Marie-Tooth disease axonal type 2C
        Charcot-Marie-Tooth disease axonal type 2F
        Charcot-Marie-Tooth disease axonal type 2H
        Charcot-Marie-Tooth disease axonal type 2L
        Charcot-Marie-Tooth disease axonal type 2N
        Charcot-Marie-Tooth disease axonal type 2O
        Charcot-Marie-Tooth disease axonal type 2P
        Charcot-Marie-Tooth disease axonal type 2Q
        Charcot-Marie-Tooth disease axonal type 2U
        Charcot-Marie-Tooth disease axonal type 2V
        Charcot-Marie-Tooth disease axonal type 2Z
        Charcot-Marie-Tooth disease type 2A1
        Charcot-Marie-Tooth disease type 2A2
        Charcot-Marie-Tooth disease type 2B
        Charcot-Marie-Tooth disease type 2D
        Charcot-Marie-Tooth disease type 2E
        Charcot-Marie-Tooth disease type 2I
        Charcot-Marie-Tooth disease type 2J
        Charcot-Marie-Tooth disease type 2Y
        Charcot-marie-tooth disease, axonal, type 2DD
        Charcot-Marie-Tooth disease, type 2A
        Charcot-Marie-Tooth Neuropathy Type 2H/2K
        GARS-Associated Axonal Neuropathy
        Giant axonal neuropathy 2
        MME-related autosomal dominant Charcot Marie Tooth disease type 2
        Charcot-Marie-Tooth disease type 4
        Charcot-Marie-Tooth disease type 4A
        Charcot-Marie-Tooth disease type 4B1
        Charcot-Marie-Tooth disease type 4B2
        Charcot-Marie-Tooth disease type 4B3
        Charcot-Marie-Tooth disease type 4C
        Charcot-Marie-Tooth disease type 4D
        Charcot-Marie-Tooth disease type 4E
        Charcot-Marie-Tooth disease type 4F
        Charcot-Marie-Tooth disease type 4G
        Charcot-Marie-Tooth disease type 4H
        Charcot-Marie-Tooth disease type 4J
        Charcot-Marie-Tooth disease type 4K
        Dejerine-Sottas disease
        Charcot-Marie-Tooth disease type 1B
        Charcot-Marie-Tooth disease X-linked dominant 1
        Charcot-Marie-Tooth disease, type I
        Charcot-Marie-Tooth disease type 1C
        Charcot-Marie-Tooth disease type 1D
        Charcot-Marie-Tooth disease type 1E
        Charcot-Marie-Tooth disease type 1F
        Charcot-Marie-Tooth disease, type IA
        Charcot-Marie-Tooth Neuropathy X
        Charcot-Marie-Tooth disease X-linked recessive 2
        Charcot-Marie-Tooth disease X-linked recessive 3
        Charcot-Marie-Tooth disease X-linked recessive 4
        Charcot-Marie-Tooth disease X-linked recessive 5
        Neuronopathy, distal hereditary motor, autosomal dominant 1
        Polyneuropathy-hand defect syndrome
        Giant axonal neuropathy
        Giant axonal neuropathy 1
        Hereditary spastic paraplegia
        Cerebral palsy, spastic quadriplegic, 3
        Hereditary spastic paraplegia 7
        Hereditary spastic paraplegia 11
        Hereditary spastic paraplegia 3A
        Hereditary spastic paraplegia 47
        Hereditary spastic paraplegia 5A
        Spastic Paraplegia 4
        Spastic Paraplegia 76
        Phytanic acid storage disease

Follow this link to review classifications for Hereditary motor and sensory neuropathy in Orphanet.

Professional guidelines

PubMed

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P
Cochrane Database Syst Rev 2015 Dec 11;2015(12):CD011952. doi: 10.1002/14651858.CD011952. PMID: 26662471 Free PMC Article

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.

Jerath NU, Shy ME
Biochim Biophys Acta 2015 Apr;1852(4):667-78. Epub 2014 Aug 6 doi: 10.1016/j.bbadis.2014.07.031. PMID: 25108281

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

See all (12)

Recent clinical studies

Etiology

Systematic review of exercise for Charcot-Marie-Tooth disease.

Sman AD, Hackett D, Fiatarone Singh M, Fornusek C, Menezes MP, Burns J
J Peripher Nerv Syst 2015 Dec;20(4):347-62. doi: 10.1111/jns.12116. PMID: 26010435

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):190-204. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31335. PMID: 22791502

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Espinós C, Calpena E, Martínez-Rubio D, Lupo V
Adv Exp Med Biol 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. PMID: 22411234

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

See all (149)

Diagnosis

Hereditary neuropathy with liability to pressure palsies.

Attarian S, Fatehi F, Rajabally YA, Pareyson D
J Neurol 2020 Aug;267(8):2198-2206. Epub 2019 Apr 15 doi: 10.1007/s00415-019-09319-8. PMID: 30989370

Systematic review of exercise for Charcot-Marie-Tooth disease.

Sman AD, Hackett D, Fiatarone Singh M, Fornusek C, Menezes MP, Burns J
J Peripher Nerv Syst 2015 Dec;20(4):347-62. doi: 10.1111/jns.12116. PMID: 26010435

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.

Jerath NU, Shy ME
Biochim Biophys Acta 2015 Apr;1852(4):667-78. Epub 2014 Aug 6 doi: 10.1016/j.bbadis.2014.07.031. PMID: 25108281

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: 19826499 Free 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

See all (195)

Therapy

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P
Cochrane Database Syst Rev 2015 Dec 11;2015(12):CD011952. doi: 10.1002/14651858.CD011952. PMID: 26662471 Free PMC Article

Rehabilitation interventions for foot drop in neuromuscular disease.

Sackley C, Disler PB, Turner-Stokes L, Wade DT
Cochrane Database Syst Rev 2007 Apr 18;(2):CD003908. doi: 10.1002/14651858.CD003908.pub2. PMID: 17443532

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

Spanish toxic oil syndrome neuropathy in three patients with hereditary motor and sensory neuropathy type I.

de Pablos C, Calleja J, Combarros O, Berciano J
Arch Neurol 1989 Feb;46(2):202-4. doi: 10.1001/archneur.1989.00520380108022. PMID: 2916959

Prednisone-responsive hereditary motor and sensory neuropathy.

Dyck PJ, Swanson CJ, Low PA, Bartleson JD, Lambert EH
Mayo Clin Proc 1982 Apr;57(4):239-46. PMID: 7070119

See all (26)

Prognosis

Toxic medications in Charcot-Marie-Tooth patients: A systematic review.

Cavaletti G, Forsey K, Alberti P
J Peripher Nerv Syst 2023 Sep;28(3):295-307. Epub 2023 Jun 5 doi: 10.1111/jns.12566. PMID: 37249082

Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.

Shi J, Zhao F, Pang X, Huang S, Wang J, Chang X, Zhang J, Liu Y, Guo J, Zhang W
Neuromuscul Disord 2021 Feb;31(2):149-157. Epub 2020 Nov 18 doi: 10.1016/j.nmd.2020.11.002. PMID: 33323309

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P
Cochrane Database Syst Rev 2015 Dec 11;2015(12):CD011952. doi: 10.1002/14651858.CD011952. PMID: 26662471 Free PMC Article

MRI in hypertrophic mono- and polyneuropathies.

De Smet K, De Maeseneer M, Talebian Yazdi A, Stadnik T, De Mey J
Clin Radiol 2013 Mar;68(3):317-22. Epub 2012 Sep 7 doi: 10.1016/j.crad.2012.07.014. PMID: 22959851

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

See all (48)

Clinical prediction guides

Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.

Babu K, Seamon K, Jewell A, Harrison A, Harper A, Al Saif H, Couser N
Ophthalmic Genet 2023 Aug;44(4):379-384. Epub 2022 Sep 13 doi: 10.1080/13816810.2022.2116651. PMID: 36098092

Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.

Shi J, Zhao F, Pang X, Huang S, Wang J, Chang X, Zhang J, Liu Y, Guo J, Zhang W
Neuromuscul Disord 2021 Feb;31(2):149-157. Epub 2020 Nov 18 doi: 10.1016/j.nmd.2020.11.002. PMID: 33323309

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

Bernard-Marissal N, Chrast R, Schneider BL
Cell Death Dis 2018 Feb 28;9(3):333. doi: 10.1038/s41419-017-0125-1. PMID: 29491369 Free PMC Article

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

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

See all (122)

Recent systematic reviews

Toxic medications in Charcot-Marie-Tooth patients: A systematic review.

Cavaletti G, Forsey K, Alberti P
J Peripher Nerv Syst 2023 Sep;28(3):295-307. Epub 2023 Jun 5 doi: 10.1111/jns.12566. PMID: 37249082

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P
Cochrane Database Syst Rev 2015 Dec 11;2015(12):CD011952. doi: 10.1002/14651858.CD011952. PMID: 26662471 Free PMC Article

Systematic review of exercise for Charcot-Marie-Tooth disease.

Sman AD, Hackett D, Fiatarone Singh M, Fornusek C, Menezes MP, Burns J
J Peripher Nerv Syst 2015 Dec;20(4):347-62. doi: 10.1111/jns.12116. PMID: 26010435

Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.

Cordeiro JL, Marques W, Hallak JE, Osório FL
ASN Neuro 2014 May 27;6(3):185-92. doi: 10.1042/AN20130048. PMID: 24654889 Free PMC Article

Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: a systematic review.

Minis MA, Heerkens Y, Engels J, Oostendorp R, van Engelen B
Disabil Rehabil 2009;31(26):2150-63. doi: 10.3109/09638280902951838. PMID: 19903125

See all (7)

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Hereditary motor and sensory neuropathy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

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Practice guidelines

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