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Somatic sensory dysfunction

MedGen UID:
1790456
Concept ID:
C5551413
Finding
Synonym: Sensory impairment
SNOMED CT: Reduced sensation of skin (398026008)
 
HPO: HP:0003474

Definition

An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. [from HPO]

Conditions with this feature

Phytanic acid storage disease
MedGen UID:
11161
Concept ID:
C0034960
Disease or Syndrome
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.
Hereditary intrinsic factor deficiency
MedGen UID:
235598
Concept ID:
C1394891
Disease or Syndrome
Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).
Brody myopathy
MedGen UID:
371441
Concept ID:
C1832918
Disease or Syndrome
Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).
Charcot-Marie-Tooth disease type 2B
MedGen UID:
371512
Concept ID:
C1833219
Disease or Syndrome
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.
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.
Charcot-Marie-Tooth disease, dominant intermediate A
MedGen UID:
376235
Concept ID:
C1847896
Disease or Syndrome
Charcot-Marie-Tooth disease, dominant intermediate-A (CMTDIA) is an autosomal dominant peripheral neuropathy characterized by onset of symptoms in the first or second decades of life. Affected individuals have difficulty walking with muscle cramps of the lower limbs; the motor symptoms may be worsened by cold. The disorder is slowly progressive, eventually involving all 4 limbs, but patients remain ambulatory. After age 40, patients develop more severe features, including distal muscle weakness and atrophy, pes cavus, areflexia, and distal sensory loss. Electrophysiologic studies yield nerve conduction velocities with 'intermediate' values between demyelinating and axonal neuropathy (see below). One such family has been reported (Rossi et al., 1985).
Spinocerebellar ataxia type 28
MedGen UID:
339941
Concept ID:
C1853249
Disease or Syndrome
Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.
Neuronal intranuclear inclusion disease
MedGen UID:
355075
Concept ID:
C1863843
Disease or Syndrome
Neuronal intranuclear inclusion disease (NIID) is an autosomal dominant, slowly progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The age at onset varies, but most individuals present as adults between about 30 and 70 years of age. Pathologic investigation shows eosinophilic intranuclear inclusions in almost all cell types, including neurons, skin cells, fibroblasts, and skeletal muscle. Brain imaging shows a characteristic leukoencephalopathy with high intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI), as well as white matter abnormalities in subcortical and brainstem regions. Skin biopsy combined with brain imaging is useful for diagnosis (summary by Sone et al., 2016). The phenotype in some cases is suggestive of Parkinson disease (see 168600) and/or Alzheimer disease (see 104300), consistent with an evolving phenotypic spectrum of adult-onset NIID (summary by Tian et al., 2019).
Amyotrophic lateral sclerosis type 11
MedGen UID:
393399
Concept ID:
C2675491
Disease or Syndrome
An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase.
Charcot-Marie-Tooth disease axonal type 2Q
MedGen UID:
767280
Concept ID:
C3554366
Disease or Syndrome
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Hereditary spastic paraplegia 57
MedGen UID:
811490
Concept ID:
C3714897
Disease or Syndrome
An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Charcot-Marie-Tooth disease recessive intermediate C
MedGen UID:
815639
Concept ID:
C3809309
Disease or Syndrome
CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340).
Immunodeficiency 23
MedGen UID:
862808
Concept ID:
C4014371
Disease or Syndrome
IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).
Imerslund-Grasbeck syndrome type 1
MedGen UID:
865256
Concept ID:
C4016819
Finding
3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13. Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003. Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'
Charcot-Marie-Tooth disease axonal type 2CC
MedGen UID:
934757
Concept ID:
C4310790
Disease or Syndrome
Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).
Alacrima, achalasia, and intellectual disability syndrome
MedGen UID:
1640947
Concept ID:
C4706563
Disease or Syndrome
Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.
Autosomal recessive spastic paraplegia type 70
MedGen UID:
1655287
Concept ID:
C4749431
Disease or Syndrome
A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities.
Leukoencephalopathy, diffuse hereditary, with spheroids 1
MedGen UID:
1794139
Concept ID:
C5561929
Disease or Syndrome
CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years).
Spinocerebellar ataxia, autosomal recessive 32
MedGen UID:
1802496
Concept ID:
C5676978
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021).

Professional guidelines

PubMed

Kuhlmann L, Olesen SS, Olesen AE, Arendt-Nielsen L, Drewes AM
Expert Rev Clin Pharmacol 2019 Mar;12(3):249-258. Epub 2019 Feb 5 doi: 10.1080/17512433.2019.1571409. PMID: 30664364
Halbauer JD, Ashford JW, Zeitzer JM, Adamson MM, Lew HL, Yesavage JA
J Rehabil Res Dev 2009;46(6):757-96. doi: 10.1682/jrrd.2008.08.0119. PMID: 20104402
Schaible HG, Schmelz M, Tegeder I
Adv Drug Deliv Rev 2006 May 20;58(2):323-42. Epub 2006 Feb 28 doi: 10.1016/j.addr.2006.01.011. PMID: 16626837

Curated

UK NICE Guideline (NG127), Suspected neurological conditions: recognition and referral, 2023

Recent clinical studies

Etiology

Lyubashina OA, Sivachenko IB, Panteleev SS
Cell Mol Neurobiol 2022 Mar;42(2):389-417. Epub 2020 Oct 8 doi: 10.1007/s10571-020-00967-3. PMID: 33030712
O'Brien PD, Hinder LM, Callaghan BC, Feldman EL
Lancet Neurol 2017 Jun;16(6):465-477. doi: 10.1016/S1474-4422(17)30084-4. PMID: 28504110Free PMC Article
Abboud FM, Benson CJ
Neuropharmacology 2015 Jul;94:87-98. Epub 2015 Jan 12 doi: 10.1016/j.neuropharm.2014.12.017. PMID: 25592213Free PMC Article
Bouhassira D, Attal N, Alchaar H, Boureau F, Brochet B, Bruxelle J, Cunin G, Fermanian J, Ginies P, Grun-Overdyking A, Jafari-Schluep H, Lantéri-Minet M, Laurent B, Mick G, Serrie A, Valade D, Vicaut E
Pain 2005 Mar;114(1-2):29-36. Epub 2005 Jan 26 doi: 10.1016/j.pain.2004.12.010. PMID: 15733628
Vodusek DB
Urol Clin North Am 1996 Aug;23(3):427-46. doi: 10.1016/s0094-0143(05)70323-2. PMID: 8701557

Diagnosis

Qiao LY, Tiwari N
Am J Physiol Gastrointest Liver Physiol 2020 Dec 1;319(6):G748-G760. Epub 2020 Oct 21 doi: 10.1152/ajpgi.00323.2020. PMID: 33084399Free PMC Article
Chin KJ, McDonnell JG, Carvalho B, Sharkey A, Pawa A, Gadsden J
Reg Anesth Pain Med 2017 Mar/Apr;42(2):133-183. doi: 10.1097/AAP.0000000000000545. PMID: 28085788
Rosenthal P, Borsook D
Br J Ophthalmol 2016 Jan;100(1):128-34. Epub 2015 May 5 doi: 10.1136/bjophthalmol-2014-306280. PMID: 25943558Free PMC Article
Arendt-Nielsen L, Graven-Nielsen T
Best Pract Res Clin Rheumatol 2011 Apr;25(2):209-26. doi: 10.1016/j.berh.2010.01.013. PMID: 22094197
Bouhassira D, Attal N, Alchaar H, Boureau F, Brochet B, Bruxelle J, Cunin G, Fermanian J, Ginies P, Grun-Overdyking A, Jafari-Schluep H, Lantéri-Minet M, Laurent B, Mick G, Serrie A, Valade D, Vicaut E
Pain 2005 Mar;114(1-2):29-36. Epub 2005 Jan 26 doi: 10.1016/j.pain.2004.12.010. PMID: 15733628

Therapy

Chin KJ, McDonnell JG, Carvalho B, Sharkey A, Pawa A, Gadsden J
Reg Anesth Pain Med 2017 Mar/Apr;42(2):133-183. doi: 10.1097/AAP.0000000000000545. PMID: 28085788
Arendt-Nielsen L, Graven-Nielsen T
Best Pract Res Clin Rheumatol 2011 Apr;25(2):209-26. doi: 10.1016/j.berh.2010.01.013. PMID: 22094197
Govind J
Aust Fam Physician 2004 Jun;33(6):409-12. PMID: 15253601
Sweeney CJ, Gilden DH
J Neurol Neurosurg Psychiatry 2001 Aug;71(2):149-54. doi: 10.1136/jnnp.71.2.149. PMID: 11459884Free PMC Article
Rigor BM Sr
J Surg Oncol 2000 Dec;75(4):280-300. doi: 10.1002/1096-9098(200012)75:4<280::aid-jso13>3.0.co;2-q. PMID: 11135274

Prognosis

Koban L, Gianaros PJ, Kober H, Wager TD
Nat Rev Neurosci 2021 May;22(5):309-322. Epub 2021 Mar 31 doi: 10.1038/s41583-021-00446-8. PMID: 33790441Free PMC Article
Chin KJ, McDonnell JG, Carvalho B, Sharkey A, Pawa A, Gadsden J
Reg Anesth Pain Med 2017 Mar/Apr;42(2):133-183. doi: 10.1097/AAP.0000000000000545. PMID: 28085788
Siemionow M, Gharb BB, Rampazzo A
Plast Reconstr Surg 2011 Feb;127(2):652-662. doi: 10.1097/PRS.0b013e3181fed6fd. PMID: 21285770
Sweeney CJ, Gilden DH
J Neurol Neurosurg Psychiatry 2001 Aug;71(2):149-54. doi: 10.1136/jnnp.71.2.149. PMID: 11459884Free PMC Article
Vodusek DB
Urol Clin North Am 1996 Aug;23(3):427-46. doi: 10.1016/s0094-0143(05)70323-2. PMID: 8701557

Clinical prediction guides

de Souza A, Jacques R, Mohan S
Can J Neurol Sci 2023 May;50(3):346-350. Epub 2022 Apr 25 doi: 10.1017/cjn.2022.48. PMID: 35466898
Crews DE
J Physiol Anthropol 2022 Jan 3;41(1):2. doi: 10.1186/s40101-021-00274-w. PMID: 34980249Free PMC Article
Ralli M, Greco A, Turchetta R, Altissimi G, de Vincentiis M, Cianfrone G
J Int Med Res 2017 Jun;45(3):933-947. Epub 2017 May 28 doi: 10.1177/0300060517707673. PMID: 28553764Free PMC Article
Rosenthal P, Borsook D
Br J Ophthalmol 2016 Jan;100(1):128-34. Epub 2015 May 5 doi: 10.1136/bjophthalmol-2014-306280. PMID: 25943558Free PMC Article
Allison DJ, Ditor DS
Spinal Cord 2015 Jan;53(1):14-8. Epub 2014 Nov 4 doi: 10.1038/sc.2014.184. PMID: 25366531

Recent systematic reviews

Paredes Mogica JA, Feigenbaum F, Pilitsis JG, Schrot RJ, Oaklander AL, De EJB
J Neurosurg Spine 2024 Mar 1;40(3):375-388. Epub 2023 Dec 15 doi: 10.3171/2023.9.SPINE23559. PMID: 38100766

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    Curated

    • NICE, 2023
      UK NICE Guideline (NG127), Suspected neurological conditions: recognition and referral, 2023

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