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Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome(PNMHH)

MedGen UID:
482186
Concept ID:
C3280556
Disease or Syndrome
Synonym: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): MYH14 (19q13.33)
 
Monarch Initiative: MONDO:0013711
OMIM®: 614369
Orphanet: ORPHA397744

Definition

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. [from ORDO]

Clinical features

From HPO
Absent patellar reflexes
MedGen UID:
643630
Concept ID:
C0558844
Finding
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Decreased patellar reflex
MedGen UID:
478814
Concept ID:
C3277184
Finding
Decreased intensity of the patellar reflex (also known as the knee jerk reflex).
Abnormal foot morphology
MedGen UID:
1762829
Concept ID:
C5399834
Anatomical Abnormality
An abnormality of the skeleton of foot.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Fiber type grouping
MedGen UID:
478824
Concept ID:
C3277194
Finding
An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.
Mildly elevated creatine kinase
MedGen UID:
342469
Concept ID:
C1850309
Finding
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Follow this link to review classifications for Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome in Orphanet.

Professional guidelines

PubMed

Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article

Recent clinical studies

Etiology

Russo M, Crafa P, Guglielmetti S, Franzoni L, Fiore W, Di Mario F
J Gastrointestin Liver Dis 2022 Jun 12;31(2):223-228. doi: 10.15403/jgld-4245. PMID: 35574619
Giudice V, Selleri C
Semin Hematol 2022 Jan;59(1):13-20. Epub 2022 Jan 5 doi: 10.1053/j.seminhematol.2021.12.002. PMID: 35491054
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Belakhoua SM, Rodriguez FJ
Neurosurgery 2021 Feb 16;88(3):443-456. doi: 10.1093/neuros/nyab021. PMID: 33588442Free PMC Article
Davis AS, Viera AJ, Mead MD
Am Fam Physician 2014 May 1;89(9):731-8. PMID: 24784336

Diagnosis

Steenerson KK
Continuum (Minneap Minn) 2021 Apr 1;27(2):402-419. doi: 10.1212/CON.0000000000000958. PMID: 34351112
Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article
Labat JJ, Riant T, Robert R, Amarenco G, Lefaucheur JP, Rigaud J
Neurourol Urodyn 2008;27(4):306-10. doi: 10.1002/nau.20505. PMID: 17828787
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
Gwathmey KG, Grogan J
Muscle Nerve 2020 Jul;62(1):13-29. Epub 2019 Dec 26 doi: 10.1002/mus.26783. PMID: 31837157
Yoshida T, Fujino Y, Amato MB, Kavanagh BP
Am J Respir Crit Care Med 2017 Apr 15;195(8):985-992. doi: 10.1164/rccm.201604-0748CP. PMID: 27786562
Davis AS, Viera AJ, Mead MD
Am Fam Physician 2014 May 1;89(9):731-8. PMID: 24784336
Dimachkie MM, Barohn RJ
Neurol Clin 2013 May;31(2):491-510. Epub 2013 Feb 19 doi: 10.1016/j.ncl.2013.01.005. PMID: 23642721Free PMC Article

Prognosis

Elafros MA, Andersen H, Bennett DL, Savelieff MG, Viswanathan V, Callaghan BC, Feldman EL
Lancet Neurol 2022 Oct;21(10):922-936. doi: 10.1016/S1474-4422(22)00188-0. PMID: 36115364Free PMC Article
Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S
Acta Neuropathol 2020 Apr;139(4):643-665. Epub 2019 Jun 4 doi: 10.1007/s00401-019-02029-5. PMID: 31161239Free PMC Article
Davis AS, Viera AJ, Mead MD
Am Fam Physician 2014 May 1;89(9):731-8. PMID: 24784336
Khanna R
Mo Med 2011 Jan-Feb;108(1):33-6. PMID: 21462608Free PMC Article
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Strupp M, Bisdorff A, Furman J, Hornibrook J, Jahn K, Maire R, Newman-Toker D, Magnusson M
J Vestib Res 2022;32(5):389-406. doi: 10.3233/VES-220201. PMID: 35723133Free PMC Article
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
Kahn CR, Wang G, Lee KY
J Clin Invest 2019 Oct 1;129(10):3990-4000. doi: 10.1172/JCI129187. PMID: 31573548Free PMC Article
Labat JJ, Riant T, Robert R, Amarenco G, Lefaucheur JP, Rigaud J
Neurourol Urodyn 2008;27(4):306-10. doi: 10.1002/nau.20505. PMID: 17828787

Recent systematic reviews

Ahmad MS, Shaik RA, Ahmad RK, Yusuf M, Khan M, Almutairi AB, Alghuyaythat WKZ, Almutairi SB
Eur Rev Med Pharmacol Sci 2021 Sep;25(17):5561-5577. doi: 10.26355/eurrev_202109_26669. PMID: 34533807
Gonçalves LF, Patatt FSA, de Paiva KM, Haas P
Rev Assoc Med Bras (1992) 2021;67Suppl 1(Suppl 1):108-114. Epub 2021 Jul 9 doi: 10.1590/1806-9282.67.Suppl1.20200677. PMID: 34259762
Veazie S, Peterson K, Ansari Y, Chung KA, Gibbons CH, Raj SR, Helfand M
Cochrane Database Syst Rev 2021 May 17;5(5):CD012868. doi: 10.1002/14651858.CD012868.pub2. PMID: 34000076Free PMC Article
Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, Agúndez JAG
Eur J Neurol 2021 Jul;28(7):2423-2442. Epub 2021 Apr 21 doi: 10.1111/ene.14840. PMID: 33772991
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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