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Tongue atrophy

MedGen UID:
66828
Concept ID:
C0241423
Finding
Synonym: Wasted tongue
SNOMED CT: Tongue atrophy (50805004); Wasting of tongue (50805004); Tongue wasting (50805004); Atrophy of tongue (50805004)
 
HPO: HP:0012473

Definition

Wasting of the tongue. [from HPO]

Term Hierarchy

Conditions with this feature

Hemifacial atrophy
MedGen UID:
8761
Concept ID:
C0015458
Disease or Syndrome
Unilateral atrophy of facial tissues, including muscles, bones and skin.
Brown-Vialetto-van Laere syndrome 1
MedGen UID:
163239
Concept ID:
C0796274
Disease or Syndrome
Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.
Congenital myasthenic syndrome 10
MedGen UID:
376880
Concept ID:
C1850792
Disease or Syndrome
Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Charcot-Marie-Tooth disease type 4C
MedGen UID:
356581
Concept ID:
C1866636
Disease or Syndrome
SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis or kyphoscoliosis) and foot deformities (pes cavus, pes planus, or pes valgus) that typically present in the first decade of life or early adolescence. Other findings can include cranial nerve involvement (most commonly tongue involvement, facial weakness/paralysis, hearing impairment, dysarthria) and respiratory problems.
Amyotrophic lateral sclerosis type 12
MedGen UID:
462042
Concept ID:
C3150692
Disease or Syndrome
Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by Maruyama et al., 2010 and Feng et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).
Spinocerebellar ataxia type 36
MedGen UID:
483339
Concept ID:
C3472711
Disease or Syndrome
Spinocerebellar ataxia-36 (SCA36) is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Pontocerebellar hypoplasia type 1B
MedGen UID:
766363
Concept ID:
C3553449
Disease or Syndrome
EXOSC3 pontocerebellar hypoplasia (EXOSC3-PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. At birth, skeletal muscle weakness manifests as hypotonia (sometimes with congenital joint contractures) and poor feeding. In persons with prolonged survival, spasticity, dystonia, and seizures become evident. Within the first year of life respiratory insufficiency and swallowing difficulties are common. Intellectual disability is severe. Life expectancy ranges from a few weeks to adolescence. To date, 82 individuals (from 58 families) with EXOSC3-PCH have been described.
Distal arthrogryposis type 5D
MedGen UID:
767329
Concept ID:
C3554415
Disease or Syndrome
This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).
Charcot-Marie-Tooth disease axonal type 2S
MedGen UID:
863786
Concept ID:
C4015349
Disease or Syndrome
Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Myofibrillar myopathy 7
MedGen UID:
934678
Concept ID:
C4310711
Disease or Syndrome
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Facioscapulohumeral muscular dystrophy 1
MedGen UID:
1727901
Concept ID:
C5399970
Disease or Syndrome
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.
Amyotrophic lateral sclerosis 27, juvenile
MedGen UID:
1840995
Concept ID:
C5830359
Disease or Syndrome
Juvenile amyotrophic lateral sclerosis-27 (ALS27) is an autosomal dominant disorder characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms (Mohassel et al., 2021). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).

Professional guidelines

PubMed

Nagano A, Maeda K, Koike M, Murotani K, Ueshima J, Shimizu A, Inoue T, Sato K, Suenaga M, Ishida Y, Mori N
Nutrients 2020 Oct 12;12(10) doi: 10.3390/nu12103104. PMID: 33053651Free PMC Article
Imamura Y, Shinozaki T, Okada-Ogawa A, Noma N, Shinoda M, Iwata K, Wada A, Abe O, Wang K, Svensson P
J Oral Rehabil 2019 Jun;46(6):574-587. Epub 2019 Apr 10 doi: 10.1111/joor.12795. PMID: 30892737
Reamy BV, Derby R, Bunt CW
Am Fam Physician 2010 Mar 1;81(5):627-34. PMID: 20187599

Recent clinical studies

Etiology

Chen X, Yi J, Liu S, Chen W, Guan J, Pan C
Dentomaxillofac Radiol 2023 Jan 1;52(1):20220201. Epub 2022 Oct 12 doi: 10.1259/dmfr.20220201. PMID: 36168971Free PMC Article
Dabhi N, Pikis S, Mantziaris G, Tripathi M, Warnick R, Peker S, Samanci Y, Berger A, Bernstein K, Kondziolka D, Niranjan A, Lunsford LD, Sheehan JP
Acta Neurochir (Wien) 2022 Sep;164(9):2473-2481. Epub 2022 Mar 26 doi: 10.1007/s00701-022-05187-w. PMID: 35347448
Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P
Eur J Neurol 2022 Jul;29(7):2121-2128. Epub 2022 Apr 1 doi: 10.1111/ene.15330. PMID: 35302691
Karam C, Dimitrova D, Yutan E, Chahin N
J Neurol 2019 Oct;266(10):2518-2523. Epub 2019 Jun 29 doi: 10.1007/s00415-019-09455-1. PMID: 31256280Free PMC Article
Arias M, García-Murias M, Sobrido MJ
Neurologia 2017 Jul-Aug;32(6):386-393. Epub 2015 Jan 13 doi: 10.1016/j.nrl.2014.11.005. PMID: 25593102

Diagnosis

Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P
Eur J Neurol 2022 Jul;29(7):2121-2128. Epub 2022 Apr 1 doi: 10.1111/ene.15330. PMID: 35302691
Osman KL, Kohlberg S, Mok A, Brooks R, Lind LA, McCormack K, Ferreira A, Kadosh M, Fagan MK, Bearce E, Nichols NL, Coates JR, Lever TE
Dysphagia 2020 Apr;35(2):343-359. Epub 2019 Jul 12 doi: 10.1007/s00455-019-10034-9. PMID: 31300881Free PMC Article
Karam C, Dimitrova D, Yutan E, Chahin N
J Neurol 2019 Oct;266(10):2518-2523. Epub 2019 Jun 29 doi: 10.1007/s00415-019-09455-1. PMID: 31256280Free PMC Article
Hashida N, Shamoto H, Maeda K, Wakabayashi H, Suzuki M, Fujii T
Nutrition 2017 Mar;35:128-131. Epub 2016 Nov 22 doi: 10.1016/j.nut.2016.11.003. PMID: 28241980
Arias M, García-Murias M, Sobrido MJ
Neurologia 2017 Jul-Aug;32(6):386-393. Epub 2015 Jan 13 doi: 10.1016/j.nrl.2014.11.005. PMID: 25593102

Therapy

Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P
Eur J Neurol 2022 Jul;29(7):2121-2128. Epub 2022 Apr 1 doi: 10.1111/ene.15330. PMID: 35302691
Menon SMR, Mokkath NR
Pan Afr Med J 2020;37:305. Epub 2020 Dec 2 doi: 10.11604/pamj.2020.37.305.27032. PMID: 33654524Free PMC Article
Gameiro RS, Reis AIA, Grilo AC, Noronha C
BMJ Case Rep 2018 Mar 5;2018 doi: 10.1136/bcr-2017-223699. PMID: 29507032Free PMC Article
Abdalmear MM, Tomita M, Shibuya H
Anticancer Res 2013 Jan;33(1):317-24. PMID: 23267163
De Assis JL, Marchiori PE, Scaff M
Auris Nasus Larynx 1994;21(4):215-8. doi: 10.1016/s0385-8146(12)80083-6. PMID: 7779022

Prognosis

Dabhi N, Pikis S, Mantziaris G, Tripathi M, Warnick R, Peker S, Samanci Y, Berger A, Bernstein K, Kondziolka D, Niranjan A, Lunsford LD, Sheehan JP
Acta Neurochir (Wien) 2022 Sep;164(9):2473-2481. Epub 2022 Mar 26 doi: 10.1007/s00701-022-05187-w. PMID: 35347448
Pinto WBVR, Naylor FGM, Chieia MAT, de Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):238-246. Epub 2018 Oct 5 doi: 10.1016/j.neurol.2018.04.010. PMID: 30293881
Abdalmear MM, Tomita M, Shibuya H
Anticancer Res 2013 Jan;33(1):317-24. PMID: 23267163
Kunert P, Podgórska A, Bartoszewicz R, Marchel A
Neurol Neurochir Pol 2011 Sep-Oct;45(5):452-60. doi: 10.1016/s0028-3843(14)60313-3. PMID: 22127940
Sonoo M, Kuwabara S, Shimizu T, Komori T, Hirashima F, Inaba A, Hatanaka Y, Misawa S, Kugio Y; Tokyo Metropolitan Neuromuscular Electrodiagnosis Study Group
Muscle Nerve 2009 Jan;39(1):63-70. doi: 10.1002/mus.21196. PMID: 19086078

Clinical prediction guides

Karam C, Dimitrova D, Yutan E, Chahin N
J Neurol 2019 Oct;266(10):2518-2523. Epub 2019 Jun 29 doi: 10.1007/s00415-019-09455-1. PMID: 31256280Free PMC Article
Pinto WBVR, Naylor FGM, Chieia MAT, de Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):238-246. Epub 2018 Oct 5 doi: 10.1016/j.neurol.2018.04.010. PMID: 30293881
Zampeli E, Kalogirou EM, Piperi E, Mavragani CP, Moutsopoulos HM
J Rheumatol 2018 Nov;45(11):1565-1571. Epub 2018 Jul 15 doi: 10.3899/jrheum.180101. PMID: 30008454
Hashida N, Shamoto H, Maeda K, Wakabayashi H, Suzuki M, Fujii T
Nutrition 2017 Mar;35:128-131. Epub 2016 Nov 22 doi: 10.1016/j.nut.2016.11.003. PMID: 28241980
Tlougan BE, Paller AS, Schaffer JV, Podjasek JO, Mandell JA, Nguyen XH, Spraker MK, Hansen RC
J Am Acad Dermatol 2013 Dec;69(6):909-15. Epub 2013 Oct 5 doi: 10.1016/j.jaad.2013.08.015. PMID: 24099729

Recent systematic reviews

Hamdi OA, Jones MK, Ziegler J, Basu A, Oyer SL
Facial Plast Surg Aesthet Med 2024 Mar-Apr;26(2):219-227. Epub 2023 Dec 28 doi: 10.1089/fpsam.2023.0144. PMID: 38153410

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