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Abnormal exteroceptive sensation

MedGen UID:
1779297
Concept ID:
C5539790
Finding
HPO: HP:0033747

Definition

A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. [from HPO]

Conditions with this feature

Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
MedGen UID:
1382553
Concept ID:
C4479653
Disease or Syndrome
NKX6-2-related disorder is characterized by a spectrum of progressive neurologic manifestations resulting from diffuse central nervous system hypomyelination. At the severe end of the spectrum is neonatal-onset nystagmus, severe spastic tetraplegia with joint contractures and scoliosis, and visual and hearing impairment, all of which rapidly progress resulting in death in early childhood. At the milder end of the spectrum is normal achievement of early motor milestones in the first year of life followed by slowly progressive complex spastic ataxia with pyramidal findings (spasticity with increased muscle tone and difficulty with gait and fine motor coordination) and cerebellar findings (nystagmus, extraocular movement disorder, dysarthria, titubation, and ataxia) with loss of developmental milestones. To date NKX6-2-related disorder has been reported in 25 individuals from 13 families.

Recent clinical studies

Etiology

Burrows K, DeVille DC, Cosgrove KT, Kuplicki RT; Tulsa 1000 Investigators, Paulus MP, Aupperle R, Khalsa SS, Stewart JL
Biol Psychol 2022 Mar;169:108286. Epub 2022 Feb 8 doi: 10.1016/j.biopsycho.2022.108286. PMID: 35149138Free PMC Article
Ricciardi L, Demartini B, Crucianelli L, Krahé C, Edwards MJ, Fotopoulou A
Biol Psychol 2016 Jan;113:68-74. Epub 2015 Oct 31 doi: 10.1016/j.biopsycho.2015.10.009. PMID: 26528552
Pavony MT, Lenzenweger MF
J Pers Disord 2013 Apr;27(2):208-21. doi: 10.1521/pedi.2013.27.2.208. PMID: 23514184
Khadilkar SV, Benny R, Kasegaonkar PS
Neurol India 2008 Oct-Dec;56(4):450-5. doi: 10.4103/0028-3886.44824. PMID: 19127041
Neufeld JD, Holroyd KA, Lipchik GL
Headache 2000 Feb;40(2):142-51. doi: 10.1046/j.1526-4610.2000.00020.x. PMID: 10759914

Diagnosis

Ishida H, Suzuki K, Grandi LC
Neuropsychologia 2015 Apr;70:442-54. Epub 2014 Oct 24 doi: 10.1016/j.neuropsychologia.2014.10.020. PMID: 25447372
Pavony MT, Lenzenweger MF
Personal Disord 2014 Apr;5(2):164-171. Epub 2013 Jul 8 doi: 10.1037/per0000017. PMID: 23834516
Pavony MT, Lenzenweger MF
J Pers Disord 2013 Apr;27(2):208-21. doi: 10.1521/pedi.2013.27.2.208. PMID: 23514184
Khadilkar SV, Benny R, Kasegaonkar PS
Neurol India 2008 Oct-Dec;56(4):450-5. doi: 10.4103/0028-3886.44824. PMID: 19127041
Neufeld JD, Holroyd KA, Lipchik GL
Headache 2000 Feb;40(2):142-51. doi: 10.1046/j.1526-4610.2000.00020.x. PMID: 10759914

Therapy

Neufeld JD, Holroyd KA, Lipchik GL
Headache 2000 Feb;40(2):142-51. doi: 10.1046/j.1526-4610.2000.00020.x. PMID: 10759914

Prognosis

Ricciardi L, Demartini B, Crucianelli L, Krahé C, Edwards MJ, Fotopoulou A
Biol Psychol 2016 Jan;113:68-74. Epub 2015 Oct 31 doi: 10.1016/j.biopsycho.2015.10.009. PMID: 26528552
Ishida H, Suzuki K, Grandi LC
Neuropsychologia 2015 Apr;70:442-54. Epub 2014 Oct 24 doi: 10.1016/j.neuropsychologia.2014.10.020. PMID: 25447372
Wiebking C, Duncan NW, Tiret B, Hayes DJ, Marjaǹska M, Doyon J, Bajbouj M, Northoff G
Neuroimage 2014 Feb 1;86:10-8. Epub 2013 Apr 22 doi: 10.1016/j.neuroimage.2013.04.042. PMID: 23618604Free PMC Article
Khadilkar SV, Benny R, Kasegaonkar PS
Neurol India 2008 Oct-Dec;56(4):450-5. doi: 10.4103/0028-3886.44824. PMID: 19127041

Clinical prediction guides

Burrows K, DeVille DC, Cosgrove KT, Kuplicki RT; Tulsa 1000 Investigators, Paulus MP, Aupperle R, Khalsa SS, Stewart JL
Biol Psychol 2022 Mar;169:108286. Epub 2022 Feb 8 doi: 10.1016/j.biopsycho.2022.108286. PMID: 35149138Free PMC Article
Ricciardi L, Demartini B, Crucianelli L, Krahé C, Edwards MJ, Fotopoulou A
Biol Psychol 2016 Jan;113:68-74. Epub 2015 Oct 31 doi: 10.1016/j.biopsycho.2015.10.009. PMID: 26528552
Ishida H, Suzuki K, Grandi LC
Neuropsychologia 2015 Apr;70:442-54. Epub 2014 Oct 24 doi: 10.1016/j.neuropsychologia.2014.10.020. PMID: 25447372
Wiebking C, Duncan NW, Tiret B, Hayes DJ, Marjaǹska M, Doyon J, Bajbouj M, Northoff G
Neuroimage 2014 Feb 1;86:10-8. Epub 2013 Apr 22 doi: 10.1016/j.neuroimage.2013.04.042. PMID: 23618604Free PMC Article
Khadilkar SV, Benny R, Kasegaonkar PS
Neurol India 2008 Oct-Dec;56(4):450-5. doi: 10.4103/0028-3886.44824. PMID: 19127041

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