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Hyperactive patellar reflex

MedGen UID:
66003
Concept ID:
C0240116
Finding
Synonyms: Hyperreflexia in knees; Hyperreflexia of the knee
 
HPO: HP:0007083

Term Hierarchy

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

Conditions with this feature

Optic atrophy 2
MedGen UID:
326915
Concept ID:
C1839576
Disease or Syndrome
A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Charcot-Marie-Tooth disease axonal type 2H
MedGen UID:
334344
Concept ID:
C1843173
Disease or Syndrome
An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1.
Charlevoix-Saguenay spastic ataxia
MedGen UID:
338620
Concept ID:
C1849140
Disease or Syndrome
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is clinically characterized by a progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Disease onset of classic ARSACS is often in early childhood, leading to delayed walking because of gait unsteadiness in very young toddlers, while an increasing number of individuals with disease onset in teenage or early-adult years are now being described. Typically the ataxia is followed by lower-limb spasticity and later by peripheral neuropathy – although pronounced peripheral neuropathy has been observed as a first sign of ARSACS. Oculomotor disturbances, dysarthria, and upper-limb ataxia develop with slower progression than the other findings. Brain imaging demonstrates atrophy of the superior vermis and the cerebellar hemisphere with additional findings on MRI, such as linear hypointensities in the pons and hyperintense rims around the thalami. Many affected individuals (though not all) have yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc noted on ophthalmologic exam, and thickened retinal fibers can be demonstrated by optical coherence tomography. Mild intellectual disability, hearing loss, and urinary urgency and incontinence have been reported in some individuals.
Autosomal recessive distal spinal muscular atrophy 2
MedGen UID:
344189
Concept ID:
C1854023
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-2 (HMNR2) is a neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).
Spastic ataxia 4
MedGen UID:
462275
Concept ID:
C3150925
Disease or Syndrome
A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.
Autosomal recessive spinocerebellar ataxia 10
MedGen UID:
462348
Concept ID:
C3150998
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).
Usher syndrome type 3B
MedGen UID:
482696
Concept ID:
C3281066
Disease or Syndrome
Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1983; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902).
Hereditary spastic paraplegia 61
MedGen UID:
816624
Concept ID:
C3810294
Disease or Syndrome
Autosomal recessive spastic paraplegia-61 (SPG61) is a complicated, early-onset spastic paraplegia (summary by Chukhrova et al., 2019).
Mitochondrial complex 4 deficiency, nuclear type 16
MedGen UID:
1762514
Concept ID:
C5436714
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Autosomal dominant Charcot-Marie-Tooth disease type 2W
MedGen UID:
1798909
Concept ID:
C5567486
Disease or Syndrome
Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by Safka Brozkova et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

Professional guidelines

PubMed

Boyraz I, Uysal H, Koc B, Sarman H
Med Glas (Zenica) 2015 Feb;12(1):19-26. PMID: 25669332

Recent clinical studies

Etiology

Boyraz I, Uysal H, Koc B, Sarman H
Med Glas (Zenica) 2015 Feb;12(1):19-26. PMID: 25669332

Diagnosis

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
Gonçalves da Silva JA, do Desterro Leiros da Costa M, de Almeida Holanda MM, Melo LR, de Araújo AF, Viana AP
Arq Neuropsiquiatr 2006 Sep;64(3A):672-5. doi: 10.1590/s0004-282x2006000400030. PMID: 17119817
Kaneko K, Taguchi T, Toyoda K, Kato Y, Azuma Y, Kawai S
Spine (Phila Pa 1976) 2004 May 1;29(9):E185-8. doi: 10.1097/00007632-200405010-00022. PMID: 15105684
Marshall GL, Little JW
J Spinal Cord Med 2002 Summer;25(2):94-9. doi: 10.1080/10790268.2002.11753608. PMID: 12137223

Therapy

Boyraz I, Uysal H, Koc B, Sarman H
Med Glas (Zenica) 2015 Feb;12(1):19-26. PMID: 25669332

Clinical prediction guides

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
Marshall GL, Little JW
J Spinal Cord Med 2002 Summer;25(2):94-9. doi: 10.1080/10790268.2002.11753608. PMID: 12137223

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