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Decreased patellar reflex

MedGen UID:
478814
Concept ID:
C3277184
Finding
Synonym: Decreased patellar reflexes
 
HPO: HP:0011808

Definition

Decreased intensity of the patellar reflex (also known as the knee jerk reflex). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Decreased patellar reflex

Conditions with this feature

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
MedGen UID:
322470
Concept ID:
C1834690
Disease or Syndrome
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010). The most common form of SMA (see, e.g., SMA1, 253300) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (600354) on chromosome 5q. Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy See also SMALED2A (615290) and SMALED2B (618291), both of which are caused by mutation in the BICD2 gene (609797) on chromosome 9q22. SMALED2A and SMALED2B differ in age at onset and severity, with SMALED2B being more severe.
Macular degeneration, age-related, 3
MedGen UID:
373276
Concept ID:
C1837187
Disease or Syndrome
Age-related macular degeneration-3 (ARMD3) is characterized by numerous small round yellow lesions visible at the temporal edge of the macula. Larger, less distinct yellow areas near the center of the macula are also observed, which represent areas of pigment epithelial detachment (Stone et al., 2004). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075.
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
MedGen UID:
482186
Concept ID:
C3280556
Disease or Syndrome
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.
Neuronopathy, distal hereditary motor, type 5B
MedGen UID:
766570
Concept ID:
C3553656
Disease or Syndrome
Autosomal dominant distal hereditary motor neuronopathy-12 (HMND12) is a neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
MedGen UID:
1669929
Concept ID:
C4747715
Disease or Syndrome
SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).
Neurodevelopmental disorder with poor growth and behavioral abnormalities
MedGen UID:
1840909
Concept ID:
C5830273
Disease or Syndrome
Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) is an autosomal recessive disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD. Affected individuals show failure to thrive with poor overall growth; some have microcephaly. Additional features may include nonspecific facial dysmorphism, hypotonia, and feeding difficulties (Vogt et al., 2022; Meng et al., 2023).

Recent clinical studies

Etiology

Uslu S, Gürbüz M, Kızılay F, Özkaynak S, Nüzket T, Uysal H
Neurol Sci 2021 Aug;42(8):3257-3266. Epub 2020 Nov 27 doi: 10.1007/s10072-020-04936-y. PMID: 33247322
Maupas E, Dyer JO, Melo SA, Forget R
Ann Phys Rehabil Med 2017 Sep;60(5):319-328. Epub 2017 May 18 doi: 10.1016/j.rehab.2017.03.008. PMID: 28528818
Gürbüz M, Bilgin S, Albayrak Y, Kızılay F, Uysal H
J Neuroeng Rehabil 2015 Oct 20;12:93. doi: 10.1186/s12984-015-0084-7. PMID: 26482429Free PMC Article
Tataroglu C, Deneri E, Ozkul A, Sair A, Yaycioglu S
Muscle Nerve 2009 Aug;40(2):264-70. doi: 10.1002/mus.21299. PMID: 19609916
Tokuhashi Y, Matsuzaki H, Uematsu Y, Oda H
Spine (Phila Pa 1976) 2001 Nov 15;26(22):E512-8. doi: 10.1097/00007632-200111150-00021. PMID: 11707722

Diagnosis

Traschütz A, Heindl F, Bilal M, Hartmann AM, Dufke C, Riess O, Zwergal A, Rujescu D, Haack T, Synofzik M, Strupp M
Neurology 2023 Sep 5;101(10):e1001-e1013. Epub 2023 Jul 17 doi: 10.1212/WNL.0000000000207553. PMID: 37460231Free PMC Article
Gürbüz M, Bilgin S, Albayrak Y, Kızılay F, Uysal H
J Neuroeng Rehabil 2015 Oct 20;12:93. doi: 10.1186/s12984-015-0084-7. PMID: 26482429Free PMC Article
Xu D, Guo X, Yang CY, Zhang LQ
Biomed Res Int 2015;2015:149875. Epub 2015 Jan 15 doi: 10.1155/2015/149875. PMID: 25654084Free PMC Article
Tataroglu C, Deneri E, Ozkul A, Sair A, Yaycioglu S
Muscle Nerve 2009 Aug;40(2):264-70. doi: 10.1002/mus.21299. PMID: 19609916
Avela J, Komi PV
Eur J Appl Physiol Occup Physiol 1998 Oct;78(5):403-10. doi: 10.1007/s004210050438. PMID: 9809840

Therapy

Maupas E, Dyer JO, Melo SA, Forget R
Ann Phys Rehabil Med 2017 Sep;60(5):319-328. Epub 2017 May 18 doi: 10.1016/j.rehab.2017.03.008. PMID: 28528818
Pitton MB, Herber S, Koch U, Oberholzer K, Drees P, Düber C
Eur Radiol 2008 Nov;18(11):2568-78. Epub 2008 Jun 4 doi: 10.1007/s00330-008-1020-z. PMID: 18523783
Farkas S
CNS Drug Rev 2006 Fall-Winter;12(3-4):218-35. doi: 10.1111/j.1527-3458.2006.00218.x. PMID: 17227288Free PMC Article
Stam J, Speelman HD, van Crevel H
Arch Neurol 1989 Jan;46(1):70-3. doi: 10.1001/archneur.1989.00520370072022. PMID: 2910264
Mathews JD, Riley MD, Fejo L, Munoz E, Milns NR, Gardner ID, Powers JR, Ganygulpa E, Gununuwawuy BJ
Med J Aust 1988 Jun 6;148(11):548-55. doi: 10.5694/j.1326-5377.1988.tb93809.x. PMID: 3374423

Prognosis

Nagata K, Yoshimura N, Hashizume H, Yamada H, Ishimoto Y, Muraki S, Nakagawa Y, Minamide A, Oka H, Kawaguchi H, Tanaka S, Nakamura K, Yoshida M
Eur Spine J 2019 May;28(5):1217-1224. Epub 2019 Feb 7 doi: 10.1007/s00586-019-05907-4. PMID: 30729302
Tanino Y, Takasaki K, Daikuya S, Suzuki T
Electromyogr Clin Neurophysiol 2007 Nov-Dec;47(7-8):369-72. PMID: 18051631
Miura S, Kusumoto M, Noda K, Azuma K, Toda R, Honda S, Ayabe M, Aizawa H, Taniwaki T
Clin Neurol Neurosurg 2007 Nov;109(9):794-8. Epub 2007 Jul 24 doi: 10.1016/j.clineuro.2007.06.003. PMID: 17651894

Clinical prediction guides

Uslu S, Gürbüz M, Kızılay F, Özkaynak S, Nüzket T, Uysal H
Neurol Sci 2021 Aug;42(8):3257-3266. Epub 2020 Nov 27 doi: 10.1007/s10072-020-04936-y. PMID: 33247322
Maupas E, Dyer JO, Melo SA, Forget R
Ann Phys Rehabil Med 2017 Sep;60(5):319-328. Epub 2017 May 18 doi: 10.1016/j.rehab.2017.03.008. PMID: 28528818
Gürbüz M, Bilgin S, Albayrak Y, Kızılay F, Uysal H
J Neuroeng Rehabil 2015 Oct 20;12:93. doi: 10.1186/s12984-015-0084-7. PMID: 26482429Free PMC Article
Xu D, Guo X, Yang CY, Zhang LQ
Biomed Res Int 2015;2015:149875. Epub 2015 Jan 15 doi: 10.1155/2015/149875. PMID: 25654084Free PMC Article
Avela J, Komi PV
Eur J Appl Physiol Occup Physiol 1998 Oct;78(5):403-10. doi: 10.1007/s004210050438. PMID: 9809840

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