U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Monomelic amyotrophy

MedGen UID:
356265
Concept ID:
C1865384
Disease or Syndrome
Synonyms: Hirayama disease; Spinal muscular atrophy juvenile nonprogressive
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0011224
OMIM®: 602440
Orphanet: ORPHA65684

Definition

Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005). [from OMIM]

Clinical features

From HPO
Upper limb muscle weakness
MedGen UID:
305607
Concept ID:
C1698196
Finding
Weakness of the muscles of the arms.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Cervical spinal cord atrophy
MedGen UID:
451068
Concept ID:
C0742191
Disease or Syndrome
Atrophy of the cervical segment of the spinal cord.
Interosseus muscle atrophy
MedGen UID:
339618
Concept ID:
C1846829
Finding
Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.
EMG: neuropathic changes
MedGen UID:
867363
Concept ID:
C4021727
Finding
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
Cold paresis
MedGen UID:
1622474
Concept ID:
C4531172
Sign or Symptom
Increased muscle weakness upon exposure to cold temperatures.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonomelic amyotrophy
Follow this link to review classifications for Monomelic amyotrophy in Orphanet.

Professional guidelines

PubMed

Souza PVS, Badia BML, Gonçalves EA, Farias IB, Libardi Silva LH, Yanagiura MT, Pinto WBVR, Oliveira ASB
Neurology 2020 Mar 3;94(9):e996-e997. Epub 2020 Feb 10 doi: 10.1212/WNL.0000000000009038. PMID: 32041728
Yavuz H
Turk J Pediatr 2012 May-Jun;54(3):320. PMID: 23094549

Recent clinical studies

Therapy

Byon JH, Park EH, Lee CH
World Neurosurg 2020 Aug;140:119-121. Epub 2020 May 17 doi: 10.1016/j.wneu.2020.05.080. PMID: 32434017
Lu F, Wang H, Jiang J, Chen W, Ma X, Ma X, Xia X, Wang L
J Neurosurg Spine 2013 Oct;19(4):412-9. Epub 2013 Aug 9 doi: 10.3171/2013.4.SPINE12575. PMID: 23930718
Khandelwal D, Bhatia M, Vivekanandan S, Singh S, Shukla G, Goyal V, Behari M
Neurol India 2006 Dec;54(4):399-401. doi: 10.4103/0028-3886.28114. PMID: 17114851
Paradiso G
Muscle Nerve 1997 Apr;20(4):425-30. doi: 10.1002/(sici)1097-4598(199704)20:4<425::aid-mus4>3.0.co;2-c. PMID: 9121499
Gücüyener K, Aysun S, Topaloglu H, Inan L, Varli K
Pediatr Neurol 1991 May-Jun;7(3):220-2. doi: 10.1016/0887-8994(91)90089-4. PMID: 1878104

Prognosis

Pennington Z, Lakomkin N, Michalopoulos GD, Mikula AL, Ahn ES, Bydon M, Clarke MJ, Elder BD, Fogelson JL
World Neurosurg 2023 Apr;172:e278-e290. Epub 2023 Jan 7 doi: 10.1016/j.wneu.2023.01.009. PMID: 36623725
Wang L, Wen H, Chen S, Wang H, Zheng Y, Chen R, Li J, Jiang K, Xiang H, Zhu M, Zhou M, Yao S, Hong D
Brain Behav 2021 Apr;11(4):e02073. Epub 2021 Mar 2 doi: 10.1002/brb3.2073. PMID: 33650811Free PMC Article
Verschueren A
Rev Neurol (Paris) 2017 May;173(5):320-325. Epub 2017 Apr 20 doi: 10.1016/j.neurol.2017.03.018. PMID: 28434507
Vibha D, Behari M, Goyal V, Shukla G, Bhatia R, Srivastava AK, Vivekanandhan S
J Neurol Sci 2015 Dec 15;359(1-2):4-7. Epub 2015 Oct 18 doi: 10.1016/j.jns.2015.10.026. PMID: 26671077
Hassan KM, Sahni H
Biomed Res Int 2013;2013:478516. Epub 2013 Aug 26 doi: 10.1155/2013/478516. PMID: 24063005Free PMC Article

Clinical prediction guides

Vengalil S, Pruthi N, Bhat D, Uppar AM, Polavarapu K, Preethish-Kumar V, Nashi S, Rajesh S, Aswini NS, Behera BP, Vandhiyadevan GD, Prasad C, Baskar D, Kulanthaivelu K, Saravanan A, Kandavel T, Nishadham V, Huddar A, Unnikrishnan G, Thomas A, Keerthipriya MS, Sanka SB, Manjunath N, Valasani RK, Bardhan M, Nalini A
World Neurosurg 2024 Mar;183:e88-e97. Epub 2023 Nov 23 doi: 10.1016/j.wneu.2023.11.087. PMID: 38006932
Pennington Z, Lakomkin N, Michalopoulos GD, Mikula AL, Ahn ES, Bydon M, Clarke MJ, Elder BD, Fogelson JL
World Neurosurg 2023 Apr;172:e278-e290. Epub 2023 Jan 7 doi: 10.1016/j.wneu.2023.01.009. PMID: 36623725
Hassan KM, Sahni H
Biomed Res Int 2013;2013:478516. Epub 2013 Aug 26 doi: 10.1155/2013/478516. PMID: 24063005Free PMC Article
Gourie-Devi M, Nalini A
Acta Neurol Scand 2001 Sep;104(3):162-6. doi: 10.1034/j.1600-0404.2001.00016.x. PMID: 11551236
Gourie-Devi M, Suresh TG, Shankar SK
Arch Neurol 1984 Apr;41(4):388-94. doi: 10.1001/archneur.1984.04050160050015. PMID: 6703940

Recent systematic reviews

Pennington Z, Lakomkin N, Michalopoulos GD, Mikula AL, Ahn ES, Bydon M, Clarke MJ, Elder BD, Fogelson JL
World Neurosurg 2023 Apr;172:e278-e290. Epub 2023 Jan 7 doi: 10.1016/j.wneu.2023.01.009. PMID: 36623725

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...