U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Quadriceps muscle atrophy

MedGen UID:
870170
Concept ID:
C4024603
Pathologic Function
Synonyms: Atrophy of quadriceps femoris muscle; Wasting of quad muscles
SNOMED CT: Atrophy of quadriceps femoris muscle (719183007); Quadriceps muscle atrophy (719183007)
 
HPO: HP:0009050

Definition

Muscular atrophy involving the quadriceps muscle. [from HPO]

Term Hierarchy

Conditions with this feature

Spinal muscular atrophy, type IV
MedGen UID:
325364
Concept ID:
C1838230
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Autosomal recessive limb-girdle muscular dystrophy type 2L
MedGen UID:
370102
Concept ID:
C1969785
Disease or Syndrome
The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). Incidental hyperCKemia may be present even earlier. Initial symptoms are walking difficulties, reduced sports performance, and difficulties in standing on toes as well as nonspecific exercise myalgia and/or burning sensation in the calf muscles. Muscle weakness and atrophy are frequently asymmetric. Cardiac findings can include cardiomyopathy and arrhythmias and/or left ventricular dysfunction. Bulbar or respiratory symptoms have not been reported. Females have milder disease manifestations than males. Disease progression is slow in both the LGMD and distal forms; ambulation is preserved until very late in the disease course. Life span is normal.
Miyoshi muscular dystrophy 3
MedGen UID:
413750
Concept ID:
C2750076
Disease or Syndrome
The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). Incidental hyperCKemia may be present even earlier. Initial symptoms are walking difficulties, reduced sports performance, and difficulties in standing on toes as well as nonspecific exercise myalgia and/or burning sensation in the calf muscles. Muscle weakness and atrophy are frequently asymmetric. Cardiac findings can include cardiomyopathy and arrhythmias and/or left ventricular dysfunction. Bulbar or respiratory symptoms have not been reported. Females have milder disease manifestations than males. Disease progression is slow in both the LGMD and distal forms; ambulation is preserved until very late in the disease course. Life span is normal.
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

de Luis D, Primo D, Izaola O, Gómez JJL
Nutrition 2024 Apr;120:112348. Epub 2023 Dec 30 doi: 10.1016/j.nut.2023.112348. PMID: 38309190
López-Cervantes SP, Sánchez NS, Calahorra M, Mena-Montes B, Pedraza-Vázquez G, Hernández-Álvarez D, Esparza-Perusquía M, Peña A, López-Díazguerrero NE, Alarcón-Aguilar A, Luna-López A, Flores-Herrera Ó, Königsberg M
Arch Gerontol Geriatr 2022 Sep-Oct;102:104717. Epub 2022 May 11 doi: 10.1016/j.archger.2022.104717. PMID: 35594738
Lake DA
Sports Med 1992 May;13(5):320-36. doi: 10.2165/00007256-199213050-00003. PMID: 1565927

Recent clinical studies

Etiology

Wengle L, Migliorini F, Leroux T, Chahal J, Theodoropoulos J, Betsch M
Am J Sports Med 2022 Aug;50(10):2824-2833. Epub 2021 Aug 18 doi: 10.1177/03635465211027296. PMID: 34406084Free PMC Article
Toth MJ, Tourville TW, Voigt TB, Choquette RH, Anair BM, Falcone MJ, Failla MJ, Stevens-Lapslaey JE, Endres NK, Slauterbeck JR, Beynnon BD
Am J Sports Med 2020 Aug;48(10):2429-2437. Epub 2020 Jul 6 doi: 10.1177/0363546520933622. PMID: 32631074Free PMC Article
De Baere T, Geulette B, Manche E, Barras L
Acta Orthop Belg 2002 Apr;68(2):146-9. PMID: 12051000
Madsen BL, Noer HH, Carstensen JP, Nørmark F
Orthopedics 2000 Mar;23(3):223-6. doi: 10.3928/0147-7447-20000301-17. PMID: 10741366
Mäenpää H, Lehto MU
Clin Orthop Relat Res 1997 Jun;(339):156-62. doi: 10.1097/00003086-199706000-00021. PMID: 9186214

Diagnosis

Ong MT, Man GC, Lau LC, He X, Qiu J, Wang Q, Chow MC, Choi BC, Yu M, Yung PS
Trials 2022 Sep 12;23(1):771. doi: 10.1186/s13063-022-06674-2. PMID: 36096886Free PMC Article
Scott JM, Martin DS, Ploutz-Snyder R, Matz T, Caine T, Downs M, Hackney K, Buxton R, Ryder JW, Ploutz-Snyder L
J Cachexia Sarcopenia Muscle 2017 Jun;8(3):475-481. Epub 2017 Jan 3 doi: 10.1002/jcsm.12172. PMID: 28052593Free PMC Article
Suksathien R
J Med Assoc Thai 2008 Apr;91(4):568-73. PMID: 18556869
Kazakos K, Chatzipapas C, Xarchas KC, Mantatzis M, Tilkeridis K, Galanis V, Verettas DA
Med Sci Monit 2006 Sep;12(9):CS85-9. PMID: 16940936
Holibková A, Machálek L, Holibka R, Chromek Z
Acta Univ Palacki Olomuc Fac Med 1989;123:147-68. PMID: 2533823

Therapy

Amestoy J, Pérez-Prieto D, Torres-Claramunt R, Sánchez-Soler JF, Solano A, Leal-Blanquet J, Hinarejos P, Monllau JC
Knee Surg Sports Traumatol Arthrosc 2022 Jun;30(6):1880-1887. Epub 2021 Dec 18 doi: 10.1007/s00167-021-06820-4. PMID: 34921320Free PMC Article
Toth MJ, Tourville TW, Voigt TB, Choquette RH, Anair BM, Falcone MJ, Failla MJ, Stevens-Lapslaey JE, Endres NK, Slauterbeck JR, Beynnon BD
Am J Sports Med 2020 Aug;48(10):2429-2437. Epub 2020 Jul 6 doi: 10.1177/0363546520933622. PMID: 32631074Free PMC Article
Friedmann-Bette B, Profit F, Gwechenberger T, Weiberg N, Parstorfer M, Weber MA, Streich N, Barié A
Med Sci Sports Exerc 2018 Jun;50(6):1152-1161. doi: 10.1249/MSS.0000000000001564. PMID: 29389836
Talbot LA, Brede E, Metter EJ
Mil Med 2017 Jan;182(1):e1528-e1535. doi: 10.7205/MILMED-D-16-00037. PMID: 28051969
Grapar Žargi T, Drobnič M, Vauhnik R, Koder J, Kacin A
Knee 2017 Mar;24(2):319-328. Epub 2016 Dec 4 doi: 10.1016/j.knee.2016.11.003. PMID: 27923622

Prognosis

Keeble AR, Brightwell CR, Latham CM, Thomas NT, Mobley CB, Murach KA, Johnson DL, Noehren B, Fry CS
Am J Sports Med 2023 Jan;51(1):81-96. Epub 2022 Dec 7 doi: 10.1177/03635465221135769. PMID: 36475881Free PMC Article
Hunt ER, Davi SM, Parise CN, Clark K, Van Pelt DW, Confides AL, Buckholts KA, Jacobs CA, Lattermann C, Dupont-Versteegden EE, Butterfield TA, Lepley LK
J Appl Physiol (1985) 2022 Jan 1;132(1):46-57. Epub 2021 Nov 11 doi: 10.1152/japplphysiol.00070.2021. PMID: 34762530Free PMC Article
Grapar Žargi T, Drobnič M, Vauhnik R, Koder J, Kacin A
Knee 2017 Mar;24(2):319-328. Epub 2016 Dec 4 doi: 10.1016/j.knee.2016.11.003. PMID: 27923622
Mäenpää H, Lehto MU
Clin Orthop Relat Res 1997 Jun;(339):156-62. doi: 10.1097/00003086-199706000-00021. PMID: 9186214
Järvinen M, Kannus P
Ann Chir Gynaecol 1987;76(2):108-13. PMID: 3619388

Clinical prediction guides

Norimatsu K, Nakanishi K, Ijuin T, Otsuka S, Takada S, Tani A, Matsuzaki R, Matsuoka T, Sakakima H
Arthritis Res Ther 2023 Sep 14;25(1):168. doi: 10.1186/s13075-023-03162-z. PMID: 37710278Free PMC Article
Hunt ER, Davi SM, Parise CN, Clark K, Van Pelt DW, Confides AL, Buckholts KA, Jacobs CA, Lattermann C, Dupont-Versteegden EE, Butterfield TA, Lepley LK
J Appl Physiol (1985) 2022 Jan 1;132(1):46-57. Epub 2021 Nov 11 doi: 10.1152/japplphysiol.00070.2021. PMID: 34762530Free PMC Article
Wengle L, Migliorini F, Leroux T, Chahal J, Theodoropoulos J, Betsch M
Am J Sports Med 2022 Aug;50(10):2824-2833. Epub 2021 Aug 18 doi: 10.1177/03635465211027296. PMID: 34406084Free PMC Article
Maeda H, Imada K, Ishida K, Akima H
Eur Neurol 2019;81(1-2):56-62. Epub 2019 May 8 doi: 10.1159/000500415. PMID: 31067559
Grapar Žargi T, Drobnič M, Vauhnik R, Koder J, Kacin A
Knee 2017 Mar;24(2):319-328. Epub 2016 Dec 4 doi: 10.1016/j.knee.2016.11.003. PMID: 27923622

Recent systematic reviews

Wengle L, Migliorini F, Leroux T, Chahal J, Theodoropoulos J, Betsch M
Am J Sports Med 2022 Aug;50(10):2824-2833. Epub 2021 Aug 18 doi: 10.1177/03635465211027296. PMID: 34406084Free PMC Article
Giles LS, Webster KE, McClelland JA, Cook J
J Orthop Sports Phys Ther 2013 Nov;43(11):766-76. Epub 2013 Sep 9 doi: 10.2519/jospt.2013.4833. PMID: 24175596

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...