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Neuropathic spinal arthropathy

MedGen UID:
1814635
Concept ID:
C5702564
Disease or Syndrome
Synonyms: Charcot spinal arthropathy; Spinal deformities; Spinal neuroarthropathy
 
HPO: HP:0008443

Definition

A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. [from HPO]

Term Hierarchy

Conditions with this feature

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
MedGen UID:
375113
Concept ID:
C1843183
Disease or Syndrome
Mitochondrial DNA depletion syndrome 11
MedGen UID:
767376
Concept ID:
C3554462
Disease or Syndrome
Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).

Professional guidelines

PubMed

Martin SC, Macey AR, Raghu A, Edwards T, Watson C, Bojanić S, FitzGerald JJ, Green AL
World Neurosurg 2020 Nov;143:e303-e308. Epub 2020 Jul 22 doi: 10.1016/j.wneu.2020.07.102. PMID: 32711140
Cohen SP, Hooten WM
BMJ 2017 Aug 14;358:j3221. doi: 10.1136/bmj.j3221. PMID: 28807894
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

Recent clinical studies

Etiology

Bertero G, Wetzel-Weaver A, Jordan X
Am J Case Rep 2023 Dec 28;24:e940830. doi: 10.12659/AJCR.940830. PMID: 38151858Free PMC Article
Krebs J, Grasmücke D, Pötzel T, Pannek J
Neurourol Urodyn 2016 Feb;35(2):241-5. Epub 2014 Dec 18 doi: 10.1002/nau.22706. PMID: 25524388

Diagnosis

Staudt MD, Bailey CS, Siddiqi F
Neurosurg Rev 2018 Oct;41(4):899-908. Epub 2017 Jan 26 doi: 10.1007/s10143-017-0814-3. PMID: 28124176
Aydinli U, Mohan NK, Kara K
World Neurosurg 2016 Oct;94:580.e1-580.e4. Epub 2016 Jul 26 doi: 10.1016/j.wneu.2016.07.064. PMID: 27474457
Krebs J, Grasmücke D, Pötzel T, Pannek J
Neurourol Urodyn 2016 Feb;35(2):241-5. Epub 2014 Dec 18 doi: 10.1002/nau.22706. PMID: 25524388
Staloch MA, Hatem SF
Emerg Radiol 2007 Sep;14(4):265-9. Epub 2007 Jun 7 doi: 10.1007/s10140-007-0615-z. PMID: 17554573
Werner JG Jr, Holt RT
J Ky Med Assoc 1995 Feb;93(2):48-52. PMID: 7884293

Therapy

Ryu JH, Lee JS, Lim CR, Cho WJ, Kim KW
BMC Musculoskelet Disord 2020 Jun 29;21(1):412. doi: 10.1186/s12891-020-03451-7. PMID: 32600397Free PMC Article
Krebs J, Grasmücke D, Pötzel T, Pannek J
Neurourol Urodyn 2016 Feb;35(2):241-5. Epub 2014 Dec 18 doi: 10.1002/nau.22706. PMID: 25524388
Ravindra VM, Ray WZ, Sayama CM, Dailey AT
Arch Phys Med Rehabil 2015 Apr;96(4):697-701. Epub 2014 Nov 25 doi: 10.1016/j.apmr.2014.10.025. PMID: 25461826
Luke DL, Bridwell KH
J Spinal Disord 1990 Mar;3(1):87-92. PMID: 2134416

Prognosis

Bertero G, Wetzel-Weaver A, Jordan X
Am J Case Rep 2023 Dec 28;24:e940830. doi: 10.12659/AJCR.940830. PMID: 38151858Free PMC Article
Montgomery TJ, McGuire RA
J Miss State Med Assoc 1992 Jun;33(6):209-11. PMID: 1386632

Clinical prediction guides

Krebs J, Grasmücke D, Pötzel T, Pannek J
Neurourol Urodyn 2016 Feb;35(2):241-5. Epub 2014 Dec 18 doi: 10.1002/nau.22706. PMID: 25524388
Vialle R, Mary P, Tassin JL, Parker F, Guillaumat M
Spine (Phila Pa 1976) 2005 Jun 1;30(11):E315-22. doi: 10.1097/01.brs.0000164283.01454.9f. PMID: 15928542

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