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Positive Romberg sign

MedGen UID:
66017
Concept ID:
C0240914
Finding
Synonyms: Romberg sign positive; Romberg's sign positive
SNOMED CT: Romberg sign positive (298310004); Romberg's sign positive (298310004)
 
HPO: HP:0002403

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Positive Romberg sign

Conditions with this feature

Hereditary motor and sensory neuropathy with optic atrophy
MedGen UID:
140747
Concept ID:
C0393807
Disease or Syndrome
MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.
Posterior column ataxia-retinitis pigmentosa syndrome
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa 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).
Ataxia, sensory, autosomal dominant
MedGen UID:
332346
Concept ID:
C1837015
Disease or Syndrome
Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.
Charcot-Marie-Tooth disease, X-linked recessive, type 5
MedGen UID:
374254
Concept ID:
C1839566
Disease or Syndrome
X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1-related disorders, is characterized by peripheral neuropathy, early-onset (prelingual) bilateral profound sensorineural hearing loss, and optic neuropathy. The onset of peripheral neuropathy is between ages five and 12 years. The lower extremities are affected earlier and more severely than upper extremities. Initial manifestations often include foot drop or gait disturbance. Onset of visual impairment is between ages seven and 20 years. Intellect and life span are normal. Carrier females do not have findings of CMTX5.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
MedGen UID:
375302
Concept ID:
C1843851
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Spinocerebellar ataxia type 17
MedGen UID:
337637
Concept ID:
C1846707
Disease or Syndrome
Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course.
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
MedGen UID:
482853
Concept ID:
C3281223
Disease or Syndrome
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011).
Perrault syndrome 5
MedGen UID:
863744
Concept ID:
C4015307
Disease or Syndrome
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
MedGen UID:
897191
Concept ID:
C4225153
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Spinocerebellar ataxia, autosomal recessive 26
MedGen UID:
1617917
Concept ID:
C4539948
Disease or Syndrome
Spinocerebellar ataxia 46
MedGen UID:
1624251
Concept ID:
C4540404
Disease or Syndrome

Recent clinical studies

Etiology

Argyriou AA, Bruna J, Anastopoulou GG, Velasco R, Litsardopoulos P, Kalofonos HP
Support Care Cancer 2020 Apr;28(4):1991-1995. Epub 2019 Aug 5 doi: 10.1007/s00520-019-05023-5. PMID: 31378844
Egan W, Steinberg E, Rose J
Am J Emerg Med 2018 Sep;36(9):1717.e1-1717.e2. Epub 2018 May 24 doi: 10.1016/j.ajem.2018.05.029. PMID: 29859645
Arshi B, Shaw S
Clin Toxicol (Phila) 2014 Sep-Oct;52(8):905-6. doi: 10.3109/15563650.2014.953170. PMID: 25200456
Briganti F, Leone G, Briganti G, Orefice G, Caranci F, Maiuri F
Neuroradiol J 2013 Jun;26(3):304-9. Epub 2013 Jul 16 doi: 10.1177/197140091302600309. PMID: 23859287Free PMC Article
Heffez DS, Ross RE, Shade-Zeldow Y, Kostas K, Shah S, Gottschalk R, Elias DA, Shepard A, Leurgans SE, Moore CG
Eur Spine J 2004 Oct;13(6):516-23. Epub 2004 Apr 9 doi: 10.1007/s00586-004-0672-x. PMID: 15083352Free PMC Article

Diagnosis

Argyriou AA, Bruna J, Anastopoulou GG, Velasco R, Litsardopoulos P, Kalofonos HP
Support Care Cancer 2020 Apr;28(4):1991-1995. Epub 2019 Aug 5 doi: 10.1007/s00520-019-05023-5. PMID: 31378844
Zhang N, Qi Z, Zhang X, Zhong F, Yao H, Xu X, Liu J, Huang Y
J Int Med Res 2019 Apr;47(4):1771-1777. Epub 2019 Feb 24 doi: 10.1177/0300060518808961. PMID: 30799663Free PMC Article
Jing C, Wang Z, Chu C, Dong M, Lin W
Medicine (Baltimore) 2018 Mar;97(9):e9824. doi: 10.1097/MD.0000000000009824. PMID: 29489680Free PMC Article
Liao B, Kamiya-Matsuoka C, Fang X, Smith RG, Shanina E
Int J Neurosci 2016 Dec;126(12):1139-41. Epub 2016 Jan 25 doi: 10.3109/00207454.2015.1136825. PMID: 26710925
Cazzato D, Bella ED, Dacci P, Mariotti C, Lauria G
J Neurol 2016 Feb;263(2):245-249. Epub 2015 Nov 14 doi: 10.1007/s00415-015-7951-9. PMID: 26566912

Therapy

Argyriou AA, Bruna J, Anastopoulou GG, Velasco R, Litsardopoulos P, Kalofonos HP
Support Care Cancer 2020 Apr;28(4):1991-1995. Epub 2019 Aug 5 doi: 10.1007/s00520-019-05023-5. PMID: 31378844
Egan W, Steinberg E, Rose J
Am J Emerg Med 2018 Sep;36(9):1717.e1-1717.e2. Epub 2018 May 24 doi: 10.1016/j.ajem.2018.05.029. PMID: 29859645
Jing C, Wang Z, Chu C, Dong M, Lin W
Medicine (Baltimore) 2018 Mar;97(9):e9824. doi: 10.1097/MD.0000000000009824. PMID: 29489680Free PMC Article
Liao B, Kamiya-Matsuoka C, Fang X, Smith RG, Shanina E
Int J Neurosci 2016 Dec;126(12):1139-41. Epub 2016 Jan 25 doi: 10.3109/00207454.2015.1136825. PMID: 26710925
Arshi B, Shaw S
Clin Toxicol (Phila) 2014 Sep-Oct;52(8):905-6. doi: 10.3109/15563650.2014.953170. PMID: 25200456

Prognosis

Argyriou AA, Bruna J, Anastopoulou GG, Velasco R, Litsardopoulos P, Kalofonos HP
Support Care Cancer 2020 Apr;28(4):1991-1995. Epub 2019 Aug 5 doi: 10.1007/s00520-019-05023-5. PMID: 31378844
Zhang N, Qi Z, Zhang X, Zhong F, Yao H, Xu X, Liu J, Huang Y
J Int Med Res 2019 Apr;47(4):1771-1777. Epub 2019 Feb 24 doi: 10.1177/0300060518808961. PMID: 30799663Free PMC Article
Cazzato D, Bella ED, Dacci P, Mariotti C, Lauria G
J Neurol 2016 Feb;263(2):245-249. Epub 2015 Nov 14 doi: 10.1007/s00415-015-7951-9. PMID: 26566912
Briganti F, Leone G, Briganti G, Orefice G, Caranci F, Maiuri F
Neuroradiol J 2013 Jun;26(3):304-9. Epub 2013 Jul 16 doi: 10.1177/197140091302600309. PMID: 23859287Free PMC Article
Alt RS, Morrissey RP, Gang MA, Hoffman RS, Schaumburg HH
J Emerg Med 2011 Oct;41(4):378-80. Epub 2010 Jun 7 doi: 10.1016/j.jemermed.2010.04.020. PMID: 20605391

Clinical prediction guides

Argyriou AA, Bruna J, Anastopoulou GG, Velasco R, Litsardopoulos P, Kalofonos HP
Support Care Cancer 2020 Apr;28(4):1991-1995. Epub 2019 Aug 5 doi: 10.1007/s00520-019-05023-5. PMID: 31378844
Liao B, Kamiya-Matsuoka C, Fang X, Smith RG, Shanina E
Int J Neurosci 2016 Dec;126(12):1139-41. Epub 2016 Jan 25 doi: 10.3109/00207454.2015.1136825. PMID: 26710925
Habas AB, Kim Y, Jefferson BK
Am J Med 2003 Dec 1;115(8):664-6. doi: 10.1016/j.amjmed.2003.10.004. PMID: 14656620
Abrahams M, Higgins P, Whyte P, Breen P, Muttu S, Gardiner J
Acta Anaesthesiol Scand 1999 Jan;43(1):46-50. doi: 10.1034/j.1399-6576.1999.430111.x. PMID: 9926188

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