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Hyperreflexia in upper limbs

MedGen UID:
375112
Concept ID:
C1843175
Finding
Synonym: Upper limb hyperreflexia
 
HPO: HP:0007350

Term Hierarchy

Conditions with this feature

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.
Hereditary spastic paraplegia 11
MedGen UID:
388073
Concept ID:
C1858479
Disease or Syndrome
Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism with characteristic brain MRI features that include thinning of the corpus callosum. Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. Most affected individuals become wheelchair bound one or two decades after disease onset.
Hereditary spastic paraplegia 8
MedGen UID:
400359
Concept ID:
C1863704
Disease or Syndrome
Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings). Some affected individuals have urinary urgency that usually becomes apparent at the same time as the spasticity. Onset is between ages ten and 59 years. Affected individuals often become wheelchair dependent. While intra- and interfamilial phenotypic variability is high, SPG8 is typically more severe than other types of hereditary spastic paraplegia.
Hereditary spastic paraplegia 37
MedGen UID:
422458
Concept ID:
C2936880
Disease or Syndrome
A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.
Neuropathy, hereditary sensory and autonomic, type 1C
MedGen UID:
462246
Concept ID:
C3150896
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by Rotthier et al., 2010, Gantner et al., 2019, and Triplett et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).
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).
Hereditary spastic paraplegia 56
MedGen UID:
761343
Concept ID:
C3539507
Disease or Syndrome
Spastic paraplegia-56 with or without pseudoxanthoma elasticum (SPG56) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012). Some patients also have pseudoxanthoma elasticum (Legrand et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.
Spastic paraplegia 80, autosomal dominant
MedGen UID:
1682111
Concept ID:
C5193084
Disease or Syndrome
Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
MedGen UID:
1794250
Concept ID:
C5562040
Disease or Syndrome
Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive complex neurologic disorder characterized by delay of gross motor milestones, particularly walking, associated with axial hypotonia and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements, including chorea, dystonia, and dyspraxia. Some patients have impaired intellectual development, although the severity is highly variable; most have speech delay and articulation difficulties and a happy overall demeanor. Brain imaging shows myelination defects in some patients. The disorder is nonprogressive, and many patients may catch up developmentally in the second or third decades (summary by Wagner et al., 2020).
Autosomal recessive spastic paraplegia type 76
MedGen UID:
1798906
Concept ID:
C5567483
Disease or Syndrome
Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Spastic paraplegia 87, autosomal recessive
MedGen UID:
1813069
Concept ID:
C5774182
Disease or Syndrome
Autosomal recessive spastic paraplegia-87 (SPG87) is a neurologic disorder characterized by the onset of lower limb spasticity in infancy or early childhood. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia; the upper limbs and bulbar regions are not affected. Some patients may also have mild intellectual disability or speech problems. Thus, SPG87 can manifest as either a pure or a complex disorder (Tabara et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).

Professional guidelines

PubMed

Sinha S, Jagetia A
Acta Neurochir (Wien) 2011 May;153(5):975-84. Epub 2011 Feb 1 doi: 10.1007/s00701-010-0872-6. PMID: 21286762
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Dauer WT, Burke RE, Greene P, Fahn S
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Recent clinical studies

Etiology

Santos Silva C, Correia Rodrigues C, Fortuna Baptista M, Oliveira Santos M, Gromicho M, Carvalho V, Correia Guedes L, de Carvalho M
Muscle Nerve 2024 Jul;70(1):152-156. Epub 2024 Apr 30 doi: 10.1002/mus.28100. PMID: 38687249
Kanade-Mehta P, Bengtson M, Stoeckmann T, McGuire J, Ghez C, Scheidt RA
J Neuroeng Rehabil 2023 Dec 1;20(1):163. doi: 10.1186/s12984-023-01285-7. PMID: 38041164Free PMC Article
Truffert A, Sukockienė E, Desmaison A, Ališauskienė M, Iancu Ferfoglia R, Guy N
Clin Neurophysiol 2023 Mar;147:88-98. Epub 2023 Jan 23 doi: 10.1016/j.clinph.2022.12.013. PMID: 36753809
Sadeh M, Dabby R
J Clin Neurosci 2018 Jan;47:111-115. Epub 2017 Oct 31 doi: 10.1016/j.jocn.2017.10.071. PMID: 29097135
Ushiba J, Masakado Y, Komune Y, Muraoka Y, Chino N, Tomita Y
Electromyogr Clin Neurophysiol 2004 Apr-May;44(3):175-82. PMID: 15125058

Diagnosis

Santos Silva C, Correia Rodrigues C, Fortuna Baptista M, Oliveira Santos M, Gromicho M, Carvalho V, Correia Guedes L, de Carvalho M
Muscle Nerve 2024 Jul;70(1):152-156. Epub 2024 Apr 30 doi: 10.1002/mus.28100. PMID: 38687249
Hu N, Zhang L, Yang X, Fu H, Cui L, Liu M
Neurol Sci 2023 Jun;44(6):1969-1978. Epub 2023 Mar 3 doi: 10.1007/s10072-023-06703-1. PMID: 36864244
Kane SF, Abadie KV, Willson A
Am Fam Physician 2020 Dec 15;102(12):740-750. PMID: 33320508
Latorre A, Rocchi L, Magrinelli F, Mulroy E, Berardelli A, Rothwell JC, Bhatia KP
Brain 2020 Sep 1;143(9):2653-2663. doi: 10.1093/brain/awaa129. PMID: 32417917
Braun AT, Caballero-Eraso C, Lechtzin N
Clin Chest Med 2018 Jun;39(2):391-400. doi: 10.1016/j.ccm.2018.01.003. PMID: 29779597

Therapy

Cameron MH, Bethoux F, Davis N, Frederick M
Curr Neurol Neurosci Rep 2014 Aug;14(8):463. doi: 10.1007/s11910-014-0463-7. PMID: 24952479
Numasawa T, Ono A, Wada K, Yamasaki Y, Yokoyama T, Aburakawa S, Takeuchi K, Kumagai G, Kudo H, Umeda T, Nakaji S, Toh S
Spine (Phila Pa 1976) 2012 Jan 15;37(2):108-13. doi: 10.1097/BRS.0b013e31821041f8. PMID: 21252819
Kumru H, Stetkarova I, Schindler C, Vidal J, Kofler M
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Bresolin N, Zucca C, Pecori A
Adv Ther 2009 May;26(5):563-73. Epub 2009 May 20 doi: 10.1007/s12325-009-0031-8. PMID: 19458926
Espay AJ, Morgante F, Purzner J, Gunraj CA, Lang AE, Chen R
Ann Neurol 2006 May;59(5):825-34. doi: 10.1002/ana.20837. PMID: 16634038

Prognosis

Hu N, Zhang L, Yang X, Fu H, Cui L, Liu M
Neurol Sci 2023 Jun;44(6):1969-1978. Epub 2023 Mar 3 doi: 10.1007/s10072-023-06703-1. PMID: 36864244
McLendon LA, Rao CK, Da Hora CC, Islamovic F, Galan FN
Pediatrics 2021 Jun;147(6) Epub 2021 Mar 24 doi: 10.1542/peds.2020-049678. PMID: 33762311
Smith ZA, Barry AJ, Paliwal M, Hopkins BS, Cantrell D, Dhaher Y
PLoS One 2019;14(10):e0223009. Epub 2019 Oct 28 doi: 10.1371/journal.pone.0223009. PMID: 31658276Free PMC Article
Pinto WBVR, Naylor FGM, Chieia MAT, de Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):238-246. Epub 2018 Oct 5 doi: 10.1016/j.neurol.2018.04.010. PMID: 30293881
Mondelli M, Romano C, Rossi S, Cioni R
Arch Phys Med Rehabil 2002 Sep;83(9):1215-21. doi: 10.1053/apmr.2002.33989. PMID: 12235600

Clinical prediction guides

Santos Silva C, Correia Rodrigues C, Fortuna Baptista M, Oliveira Santos M, Gromicho M, Carvalho V, Correia Guedes L, de Carvalho M
Muscle Nerve 2024 Jul;70(1):152-156. Epub 2024 Apr 30 doi: 10.1002/mus.28100. PMID: 38687249
Kanade-Mehta P, Bengtson M, Stoeckmann T, McGuire J, Ghez C, Scheidt RA
J Neuroeng Rehabil 2023 Dec 1;20(1):163. doi: 10.1186/s12984-023-01285-7. PMID: 38041164Free PMC Article
Hu N, Zhang L, Yang X, Fu H, Cui L, Liu M
Neurol Sci 2023 Jun;44(6):1969-1978. Epub 2023 Mar 3 doi: 10.1007/s10072-023-06703-1. PMID: 36864244
Yao L, Zhu Z, Zhang C, Tian W, Cao L
Ann Clin Transl Neurol 2023 Mar;10(3):328-338. Epub 2023 Jan 9 doi: 10.1002/acn3.51722. PMID: 36622199Free PMC Article
Smith ZA, Barry AJ, Paliwal M, Hopkins BS, Cantrell D, Dhaher Y
PLoS One 2019;14(10):e0223009. Epub 2019 Oct 28 doi: 10.1371/journal.pone.0223009. PMID: 31658276Free PMC Article

Recent systematic reviews

Hu N, Zhang L, Yang X, Fu H, Cui L, Liu M
Neurol Sci 2023 Jun;44(6):1969-1978. Epub 2023 Mar 3 doi: 10.1007/s10072-023-06703-1. PMID: 36864244

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