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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

Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia.

de Visser M
Neuromuscul Disord 1993 Jan;3(1):77-9. doi: 10.1016/0960-8966(93)90045-l. PMID: 8329892

See all (12)

Recent clinical studies

Etiology

Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.

Vill K, Ille L, Blaschek A, Rawer R, Landgraf MN, Gerstl L, Schroeder SA, Müller-Felber W
Neuropediatrics 2017 Dec;48(6):420-425. Epub 2017 Jun 22 doi: 10.1055/s-0037-1603778. PMID: 28641335

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

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

The steroid treatment of hereditary motor and sensory neuropathy.

Prensky AL, Dodson WE
Neuropediatrics 1984 Oct;15(4):203-7. doi: 10.1055/s-2008-1052367. PMID: 6092990

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

Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.

Vill K, Ille L, Blaschek A, Rawer R, Landgraf MN, Gerstl L, Schroeder SA, Müller-Felber W
Neuropediatrics 2017 Dec;48(6):420-425. Epub 2017 Jun 22 doi: 10.1055/s-0037-1603778. PMID: 28641335

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.

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

Hereditary motor and sensory neuropathy: evolution of the concept and present status.

Thomas PK
Electroencephalogr Clin Neurophysiol Suppl 1987;39:115-20. PMID: 2820690

See all (196)

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

The metastasis suppressor, Ndrg-1: a new ally in the fight against cancer.

Kovacevic Z, Richardson DR
Carcinogenesis 2006 Dec;27(12):2355-66. Epub 2006 Aug 18 doi: 10.1093/carcin/bgl146. PMID: 16920733

Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).

Leonardis L, Zidar J, Trontelj J, Peterlin B
Pflugers Arch 1996;431(6 Suppl 2):R195-6. doi: 10.1007/BF02346335. PMID: 8739331

Hereditary motor and sensory neuropathy with treatable extrapyramidal features.

Jaradeh S, Dyck PJ
Arch Neurol 1992 Feb;49(2):175-8. doi: 10.1001/archneur.1992.00530260077024. PMID: 1310584

The steroid treatment of hereditary motor and sensory neuropathy.

Prensky AL, Dodson WE
Neuropediatrics 1984 Oct;15(4):203-7. doi: 10.1055/s-2008-1052367. PMID: 6092990

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

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.

Cantarero L, García-Vargas G, Hoenicka J, Palau F
Biol Open 2023 Apr 15;12(4) Epub 2023 Apr 3 doi: 10.1242/bio.059707. PMID: 36912213 Free PMC Article

Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.

Abe Y, Terashima H, Hoshino H, Sassa K, Sakai T, Ohtake A, Kubota M, Yamanouchi H
Brain Dev 2015 Oct;37(9):894-6. Epub 2015 Feb 14 doi: 10.1016/j.braindev.2015.01.006. PMID: 25687202

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

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.

Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC Jr, Krendel DA, Graham DG, Dawson DV, Roses AD
Neurology 1987 Sep;37(9):1460-5. doi: 10.1212/wnl.37.9.1460. PMID: 3476859

See all (48)

Clinical prediction guides

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

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

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

Hereditary motor and sensory neuropathy with treatable extrapyramidal features.

Jaradeh S, Dyck PJ
Arch Neurol 1992 Feb;49(2):175-8. doi: 10.1001/archneur.1992.00530260077024. PMID: 1310584

Hereditary motor and sensory neuropathy type I and motor neuron disease. An unusual association.

La Pia S, Valiani R, Vitolo S, Galdiero S, Rossi V, Santangelo R, Barbieri F
Acta Neurol (Napoli) 1989 Aug;11(4):226-32. PMID: 2801256

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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

Reliability of Muscle Strength and Muscle Power Assessments Using Isokinetic Dynamometry in Neuromuscular Diseases: A Systematic Review.

van der Woude DR, Ruyten T, Bartels B
Phys Ther 2022 Oct 6;102(10) doi: 10.1093/ptj/pzac099. PMID: 35899532 Free PMC Article

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

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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