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Impaired proprioception

MedGen UID:
346424
Concept ID:
C1856691
Finding
Synonym: Abnormality of proprioception
 
HPO: HP:0010831

Definition

A loss or impairment of the sensation of the relative position of parts of the body and joint position. [from HPO]

Conditions with this feature

Spinocerebellar ataxia type 1
MedGen UID:
155703
Concept ID:
C0752120
Disease or Syndrome
Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of up-gaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.
Posterior column ataxia-retinitis pigmentosa syndrome
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa (AXPC1) is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).
Familial isolated deficiency of vitamin E
MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs.
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
MedGen UID:
340052
Concept ID:
C1853761
Disease or Syndrome
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
Visceral neuropathy, familial, 1, autosomal recessive
MedGen UID:
340946
Concept ID:
C1855733
Disease or Syndrome
Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
MedGen UID:
344563
Concept ID:
C1855739
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Friedreich ataxia 1
MedGen UID:
383962
Concept ID:
C1856689
Disease or Syndrome
Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.
Posterior column ataxia
MedGen UID:
357379
Concept ID:
C1867923
Disease or Syndrome
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
MedGen UID:
815995
Concept ID:
C3809665
Disease or Syndrome
Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Spinocerebellar ataxia type 35
MedGen UID:
854733
Concept ID:
C3888031
Disease or Syndrome
Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Congenital insensitivity to pain-hypohidrosis syndrome
MedGen UID:
894363
Concept ID:
C4225308
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400).
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
MedGen UID:
1731194
Concept ID:
C5435765
Disease or Syndrome
Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020).
Spastic paraplegia 85, autosomal recessive
MedGen UID:
1794263
Concept ID:
C5562053
Disease or Syndrome
Autosomal recessive spastic paraplegia-85 (SPG85) is a neurologic disorder characterized by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities. Older patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy (summary by Wagner et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).

Professional guidelines

PubMed

Hart CA, Tsui J, Khanna A, Abraham DJ, Baker DM
Exp Biol Med (Maywood) 2013 Oct;238(10):1118-26. Epub 2013 Aug 30 doi: 10.1177/1535370213503275. PMID: 23996960
Hankey GJ, Edis RH
J Neurol Neurosurg Psychiatry 1989 Mar;52(3):395-8. doi: 10.1136/jnnp.52.3.395. PMID: 2926427Free PMC Article

Recent clinical studies

Etiology

Choi JY, Yoo T, Burcal CJ, Rosen AB
Gait Posture 2023 Sep;106:28-33. Epub 2023 Aug 23 doi: 10.1016/j.gaitpost.2023.08.013. PMID: 37639962
Wirz M, van Hedel HJA
Handb Clin Neurol 2018;159:367-384. doi: 10.1016/B978-0-444-63916-5.00024-0. PMID: 30482328
Syx D, De Wandele I, Rombaut L, Malfait F
Clin Exp Rheumatol 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28 PMID: 28967365
Stanton TR, Leake HB, Chalmers KJ, Moseley GL
Phys Ther 2016 Jun;96(6):876-87. Epub 2015 Oct 15 doi: 10.2522/ptj.20150241. PMID: 26472296Free PMC Article
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H
Expert Opin Pharmacother 2014 Dec;15(18):2653-71. Epub 2014 Oct 17 doi: 10.1517/14656566.2014.970530. PMID: 25323828Free PMC Article

Diagnosis

Morito T, Kaneoka K
Eur Spine J 2023 Jun;32(6):2042-2047. Epub 2023 Apr 12 doi: 10.1007/s00586-023-07556-0. PMID: 37043054
Yeşil M, Köseoğlu Toksoy C
Jt Dis Relat Surg 2023;34(1):215-223. Epub 2023 Jan 14 doi: 10.52312/jdrs.2023.950. PMID: 36700285Free PMC Article
Syx D, De Wandele I, Rombaut L, Malfait F
Clin Exp Rheumatol 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28 PMID: 28967365
Röijezon U, Clark NC, Treleaven J
Man Ther 2015 Jun;20(3):368-77. Epub 2015 Jan 29 doi: 10.1016/j.math.2015.01.008. PMID: 25703454
Doherty KM, van de Warrenburg BP, Peralta MC, Silveira-Moriyama L, Azulay JP, Gershanik OS, Bloem BR
Lancet Neurol 2011 Jun;10(6):538-49. Epub 2011 Apr 22 doi: 10.1016/S1474-4422(11)70067-9. PMID: 21514890

Therapy

Choi JY, Yoo T, Burcal CJ, Rosen AB
Gait Posture 2023 Sep;106:28-33. Epub 2023 Aug 23 doi: 10.1016/j.gaitpost.2023.08.013. PMID: 37639962
van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J
Neurorehabil Neural Repair 2023 Jan;37(1):27-36. Epub 2023 Jan 25 doi: 10.1177/15459683221147839. PMID: 36695288Free PMC Article
Otsuka S, Papadopoulos K, Bampouras TM, Maestroni L
J Bodyw Mov Ther 2022 Jul;31:62-71. Epub 2022 Apr 6 doi: 10.1016/j.jbmt.2022.04.001. PMID: 35710223
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H
Expert Opin Pharmacother 2014 Dec;15(18):2653-71. Epub 2014 Oct 17 doi: 10.1517/14656566.2014.970530. PMID: 25323828Free PMC Article
Chang AH, Lee SJ, Zhao H, Ren Y, Zhang LQ
J Biomech 2014 Jan 22;47(2):360-6. Epub 2013 Nov 25 doi: 10.1016/j.jbiomech.2013.11.024. PMID: 24321442Free PMC Article

Prognosis

Kenzie JM, Rajashekar D, Goodyear BG, Dukelow SP
Hum Brain Mapp 2024 Jan;45(1):e26541. Epub 2023 Dec 5 doi: 10.1002/hbm.26541. PMID: 38053448Free PMC Article
Rodden LN, Rummey C, Kessler S, Wilson RB, Lynch DR
Mov Disord 2023 Jun;38(6):970-977. Epub 2023 Mar 16 doi: 10.1002/mds.29370. PMID: 36928898
Parthasharathy M, Mantini D, Orban de Xivry JJ
J Neurophysiol 2022 Feb 1;127(2):474-492. Epub 2021 Dec 22 doi: 10.1152/jn.00558.2020. PMID: 34936521
van Tunen JAC, Dell'Isola A, Juhl C, Dekker J, Steultjens M, Thorlund JB, Lund H
BMC Musculoskelet Disord 2018 Jul 28;19(1):273. doi: 10.1186/s12891-018-2202-8. PMID: 30055600Free PMC Article
Artigues-Cano I, Bird HA
J Clin Rheumatol 2014 Jun;20(4):203-8. doi: 10.1097/RHU.0000000000000109. PMID: 24847746

Clinical prediction guides

Zbytniewska-Mégret M, Kanzler CM, Raats J, Yilmazer C, Feys P, Gassert R, Lambercy O, Lamers I
Mult Scler Relat Disord 2023 Feb;70:104521. Epub 2023 Jan 14 doi: 10.1016/j.msard.2023.104521. PMID: 36701909
Parthasharathy M, Mantini D, Orban de Xivry JJ
J Neurophysiol 2022 Feb 1;127(2):474-492. Epub 2021 Dec 22 doi: 10.1152/jn.00558.2020. PMID: 34936521
Wu Z, Wang Y, Xia C, Feng Z, Qiu Y, Cheng JC, Xu L, Zhu Z
Spine (Phila Pa 1976) 2020 Feb 1;45(3):E120-E125. doi: 10.1097/BRS.0000000000003224. PMID: 31513102
Stanton TR, Leake HB, Chalmers KJ, Moseley GL
Phys Ther 2016 Jun;96(6):876-87. Epub 2015 Oct 15 doi: 10.2522/ptj.20150241. PMID: 26472296Free PMC Article
Artigues-Cano I, Bird HA
J Clin Rheumatol 2014 Jun;20(4):203-8. doi: 10.1097/RHU.0000000000000109. PMID: 24847746

Recent systematic reviews

Chinpeerasathian C, Sin Oo P, Siriphorn A, Pensri P
PLoS One 2024;19(3):e0299446. Epub 2024 Mar 8 doi: 10.1371/journal.pone.0299446. PMID: 38457399Free PMC Article
Choi JY, Yoo T, Burcal CJ, Rosen AB
Gait Posture 2023 Sep;106:28-33. Epub 2023 Aug 23 doi: 10.1016/j.gaitpost.2023.08.013. PMID: 37639962
Otsuka S, Papadopoulos K, Bampouras TM, Maestroni L
J Bodyw Mov Ther 2022 Jul;31:62-71. Epub 2022 Apr 6 doi: 10.1016/j.jbmt.2022.04.001. PMID: 35710223
Xue X, Chen Z, Xu X, Tao W, Hua Y
Am J Phys Med Rehabil 2022 Jul 1;101(7):644-651. Epub 2021 Sep 10 doi: 10.1097/PHM.0000000000001876. PMID: 34508060
Stanton TR, Leake HB, Chalmers KJ, Moseley GL
Phys Ther 2016 Jun;96(6):876-87. Epub 2015 Oct 15 doi: 10.2522/ptj.20150241. PMID: 26472296Free PMC Article

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