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Generalized hyperreflexia

MedGen UID:
870502
Concept ID:
C4024949
Finding
Synonym: Generalised hyperreflexia
 
HPO: HP:0007034

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Generalized hyperreflexia

Conditions with this feature

Progressive bulbar palsy of childhood
MedGen UID:
41975
Concept ID:
C0015708
Disease or Syndrome
Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).
Progressive encephalopathy with leukodystrophy due to DECR deficiency
MedGen UID:
346552
Concept ID:
C1857252
Disease or Syndrome
2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).
Developmental and epileptic encephalopathy, 39
MedGen UID:
414492
Concept ID:
C2751855
Disease or Syndrome
Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Larson ST, Wilbur J
Am Fam Physician 2020 Jan 15;101(2):95-108. PMID: 31939642
Ntusi NA, Coccia CB, Cupido BJ, Chin A
S Afr Med J 2015 Aug;105(8):690-3. doi: 10.7196/samjnew.8065. PMID: 26543940
Erickson RP
Arch Phys Med Rehabil 1980 Oct;61(10):431-40. PMID: 6107074

Recent clinical studies

Etiology

Zhang X, Li J, Zhang Y, Gao M, Peng T, Tian T
Cerebellum 2023 Feb;22(1):59-69. Epub 2022 Jan 27 doi: 10.1007/s12311-022-01369-5. PMID: 35084689
Tiamkao S, Tanapaisal C, Kanpittaya J, Jitpimolmard S
J Med Assoc Thai 2001 Jan;84(1):125-9. PMID: 11281491
Amin-zaki L, Majeed MA, Clarkson TW, Greenwood MR
Br Med J 1978 Mar 11;1(6113):613-6. doi: 10.1136/bmj.1.6113.613. PMID: 630256Free PMC Article

Diagnosis

Zhang X, Li J, Zhang Y, Gao M, Peng T, Tian T
Cerebellum 2023 Feb;22(1):59-69. Epub 2022 Jan 27 doi: 10.1007/s12311-022-01369-5. PMID: 35084689
Jagota P, Vincent A, Bhidayasiri R
Neurology 2014 May 6;82(18):1662-3. Epub 2014 Apr 4 doi: 10.1212/WNL.0000000000000384. PMID: 24706012Free PMC Article
Kuwabara S, Nakata M, Sung JY, Mori M, Kato N, Hattori T, Koga M, Yuki N
J Neurol Sci 2002 Jul 15;199(1-2):89-92. doi: 10.1016/s0022-510x(02)00088-6. PMID: 12084449
Tiamkao S, Tanapaisal C, Kanpittaya J, Jitpimolmard S
J Med Assoc Thai 2001 Jan;84(1):125-9. PMID: 11281491
Taraszewska A, Piekarska A, Kwiatkowski M, Wierzba-Bobrowicz T, Czorniuk-Sliwa A
Folia Neuropathol 1998;36(4):217-20. PMID: 10079603

Therapy

Jagota P, Vincent A, Bhidayasiri R
Neurology 2014 May 6;82(18):1662-3. Epub 2014 Apr 4 doi: 10.1212/WNL.0000000000000384. PMID: 24706012Free PMC Article
Yamakawa H, Yoshimura S, Iwama T
Neurol Med Chir (Tokyo) 2009 Aug;49(8):354-8. doi: 10.2176/nmc.49.354. PMID: 19707001
Tiamkao S, Tanapaisal C, Kanpittaya J, Jitpimolmard S
J Med Assoc Thai 2001 Jan;84(1):125-9. PMID: 11281491
Chotmongkol V
J Med Assoc Thai 1999 Jun;82(6):615-8. PMID: 10443086
Amin-zaki L, Majeed MA, Clarkson TW, Greenwood MR
Br Med J 1978 Mar 11;1(6113):613-6. doi: 10.1136/bmj.1.6113.613. PMID: 630256Free PMC Article

Prognosis

Miyakoshi N, Hongo M, Kasukawa Y, Shimada Y
J Med Case Rep 2014 Oct 8;8:330. doi: 10.1186/1752-1947-8-330. PMID: 25296768Free PMC Article
Tiamkao S, Tanapaisal C, Kanpittaya J, Jitpimolmard S
J Med Assoc Thai 2001 Jan;84(1):125-9. PMID: 11281491
Pratiparnawatr P, Tiamkao S, Tanapaisal C, Kanpittaya J, Jitpimolmard S
J Med Assoc Thai 2000 Dec;83(12):1530-4. PMID: 11253895
Taraszewska A, Piekarska A, Kwiatkowski M, Wierzba-Bobrowicz T, Czorniuk-Sliwa A
Folia Neuropathol 1998;36(4):217-20. PMID: 10079603
Amin-zaki L, Majeed MA, Clarkson TW, Greenwood MR
Br Med J 1978 Mar 11;1(6113):613-6. doi: 10.1136/bmj.1.6113.613. PMID: 630256Free PMC Article

Clinical prediction guides

Miyakoshi N, Hongo M, Kasukawa Y, Shimada Y
J Med Case Rep 2014 Oct 8;8:330. doi: 10.1186/1752-1947-8-330. PMID: 25296768Free PMC Article
Yamakawa H, Yoshimura S, Iwama T
Neurol Med Chir (Tokyo) 2009 Aug;49(8):354-8. doi: 10.2176/nmc.49.354. PMID: 19707001
Amin-zaki L, Majeed MA, Clarkson TW, Greenwood MR
Br Med J 1978 Mar 11;1(6113):613-6. doi: 10.1136/bmj.1.6113.613. PMID: 630256Free PMC Article
Baker JT, Nicogossian AE, Hoffler GW, Johnson RL
Aviat Space Environ Med 1976 Apr;47(4):400-2. PMID: 1275828

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