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Spastic paraparesis-deafness syndrome

MedGen UID:
419037
•Concept ID:
C2931291
•
Disease or Syndrome
Synonym: Spastic paraparesis and deafness
SNOMED CT: Spastic paraparesis co-occurrent with deafness (715504003); Spastic paraparesis and deafness (715504003); Wells Jankovic syndrome (715504003)
 
Monarch Initiative: MONDO:0010732
OMIM®: 312910
Orphanet: ORPHA2815

Definition

A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials. [from SNOMEDCT_US]

Clinical features

From HPO
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Spastic paraparesis
MedGen UID:
52432
•Concept ID:
C0037771
•
Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
See: Feature record | Search on this feature
Tremor
MedGen UID:
21635
•Concept ID:
C0040822
•
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
See: Feature record | Search on this feature
Hypogonadism
MedGen UID:
5711
•Concept ID:
C0020619
•
Disease or Syndrome
A decreased functionality of the gonad.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic paraparesis-deafness syndrome
Follow this link to review classifications for Spastic paraparesis-deafness syndrome in Orphanet.

Professional guidelines

PubMed

Brazilian practice guidelines for stroke rehabilitation: Part II.
Minelli C, Luvizutto GJ, Cacho RO, Neves LO, Magalhães SCSA, Pedatella MTA, Mendonça LIZ, Ortiz KZ, Lange MC, Ribeiro PW, Souza LAPS, Milani C, Cruz DMCD, Costa RDMD, Conforto AB, Carvalho FMM, Ciarlini BS, Frota NAF, Almeida KJ, Schochat E, Oliveira TP, Miranda C, Piemonte MEP, Lopes LCG, Lopes CG, Tosin MHS, Oliveira BC, Oliveira BGRB, Castro SS, Andrade JBC, Silva GS, Pontes-Neto OM, Carvalho JJF, Martins SCO, Bazan R
Arq Neuropsiquiatr 2022 Jul;80(7):741-758. Epub 2022 Sep 29 doi: 10.1055/s-0042-1757692. PMID: 36254447Free PMC Article
Spasticity: pathophysiology, evaluation and management.
Kheder A, Nair KP
Pract Neurol 2012 Oct;12(5):289-98. doi: 10.1136/practneurol-2011-000155. PMID: 22976059
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Cannabinoids for Medical Use: A Systematic Review and Meta-analysis.
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030
The clinical effects of Kinesio® Tex taping: A systematic review.
Morris D, Jones D, Ryan H, Ryan CG
Physiother Theory Pract 2013 May;29(4):259-70. Epub 2012 Oct 22 doi: 10.3109/09593985.2012.731675. PMID: 23088702
Cretinism revisited.
Chen ZP, Hetzel BS
Best Pract Res Clin Endocrinol Metab 2010 Feb;24(1):39-50. doi: 10.1016/j.beem.2009.08.014. PMID: 20172469

Diagnosis

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP
Cerebellum 2022 Dec;21(6):1073-1084. Epub 2021 Nov 15 doi: 10.1007/s12311-021-01345-5. PMID: 34782953
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Cerebral Palsy: An Overview.
Gulati S, Sondhi V
Indian J Pediatr 2018 Nov;85(11):1006-1016. Epub 2017 Nov 20 doi: 10.1007/s12098-017-2475-1. PMID: 29152685
The clinical effects of Kinesio® Tex taping: A systematic review.
Morris D, Jones D, Ryan H, Ryan CG
Physiother Theory Pract 2013 May;29(4):259-70. Epub 2012 Oct 22 doi: 10.3109/09593985.2012.731675. PMID: 23088702

Therapy

Interventional Treatment Options for Post-mastectomy Pain.
Murugappan A, Khanna A
Curr Oncol Rep 2023 Oct;25(10):1175-1179. Epub 2023 Aug 30 doi: 10.1007/s11912-023-01435-z. PMID: 37646901
Brazilian practice guidelines for stroke rehabilitation: Part II.
Minelli C, Luvizutto GJ, Cacho RO, Neves LO, Magalhães SCSA, Pedatella MTA, Mendonça LIZ, Ortiz KZ, Lange MC, Ribeiro PW, Souza LAPS, Milani C, Cruz DMCD, Costa RDMD, Conforto AB, Carvalho FMM, Ciarlini BS, Frota NAF, Almeida KJ, Schochat E, Oliveira TP, Miranda C, Piemonte MEP, Lopes LCG, Lopes CG, Tosin MHS, Oliveira BC, Oliveira BGRB, Castro SS, Andrade JBC, Silva GS, Pontes-Neto OM, Carvalho JJF, Martins SCO, Bazan R
Arq Neuropsiquiatr 2022 Jul;80(7):741-758. Epub 2022 Sep 29 doi: 10.1055/s-0042-1757692. PMID: 36254447Free PMC Article
Medical cannabinoids: a pharmacology-based systematic review and meta-analysis for all relevant medical indications.
Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Cannabinoids for Medical Use: A Systematic Review and Meta-analysis.
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030
The clinical effects of Kinesio® Tex taping: A systematic review.
Morris D, Jones D, Ryan H, Ryan CG
Physiother Theory Pract 2013 May;29(4):259-70. Epub 2012 Oct 22 doi: 10.3109/09593985.2012.731675. PMID: 23088702

Prognosis

Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Cerebral Palsy: An Overview.
Gulati S, Sondhi V
Indian J Pediatr 2018 Nov;85(11):1006-1016. Epub 2017 Nov 20 doi: 10.1007/s12098-017-2475-1. PMID: 29152685
Symptomatic therapy of multiple system atrophy.
Rohrer G, Höglinger GU, Levin J
Auton Neurosci 2018 May;211:26-30. Epub 2017 Oct 27 doi: 10.1016/j.autneu.2017.10.006. PMID: 29104019
Best Practices for Intrathecal Baclofen Therapy: Troubleshooting.
Saulino M, Anderson DJ, Doble J, Farid R, Gul F, Konrad P, Boster AL
Neuromodulation 2016 Aug;19(6):632-41. Epub 2016 Jul 19 doi: 10.1111/ner.12467. PMID: 27434299
Spinal cord injury pain.
Saulino M
Phys Med Rehabil Clin N Am 2014 May;25(2):397-410. Epub 2014 Mar 14 doi: 10.1016/j.pmr.2014.01.002. PMID: 24787340

Clinical prediction guides

Does HTLV-1 Infection Show Phenotypes Found in Sjögren's Syndrome?
Nakamura H, Tsukamoto M, Nagasawa Y, Kitamura N, Shimizu T, Kawakami A, Nagata K, Takei M
Viruses 2022 Jan 6;14(1) doi: 10.3390/v14010100. PMID: 35062304Free PMC Article
Transcutaneous electrical nerve stimulation for spasticity: A systematic review.
Fernández-Tenorio E, Serrano-Muñoz D, Avendaño-Coy J, Gómez-Soriano J
Neurologia (Engl Ed) 2019 Sep;34(7):451-460. Epub 2016 Jul 26 doi: 10.1016/j.nrl.2016.06.009. PMID: 27474366
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI
Am J Med Genet A 2015 Feb;167A(2):296-312. Epub 2015 Jan 16 doi: 10.1002/ajmg.a.36887. PMID: 25604658Free PMC Article
Treatment of Tourette syndrome with cannabinoids.
Müller-Vahl KR
Behav Neurol 2013;27(1):119-24. doi: 10.3233/BEN-120276. PMID: 23187140Free PMC Article
Comparative efficacy and safety of skeletal muscle relaxants for spasticity and musculoskeletal conditions: a systematic review.
Chou R, Peterson K, Helfand M
J Pain Symptom Manage 2004 Aug;28(2):140-75. doi: 10.1016/j.jpainsymman.2004.05.002. PMID: 15276195

Recent systematic reviews

Medical cannabinoids: a pharmacology-based systematic review and meta-analysis for all relevant medical indications.
Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Cannabis in Palliative Care: A Systematic Review of Current Evidence.
Doppen M, Kung S, Maijers I, John M, Dunphy H, Townsley H, Eathorne A, Semprini A, Braithwaite I
J Pain Symptom Manage 2022 Nov;64(5):e260-e284. Epub 2022 Jun 12 doi: 10.1016/j.jpainsymman.2022.06.002. PMID: 35705116
Cannabinoids for Medical Use: A Systematic Review and Meta-analysis.
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030
The clinical effects of Kinesio® Tex taping: A systematic review.
Morris D, Jones D, Ryan H, Ryan CG
Physiother Theory Pract 2013 May;29(4):259-70. Epub 2012 Oct 22 doi: 10.3109/09593985.2012.731675. PMID: 23088702
Comparative efficacy and safety of skeletal muscle relaxants for spasticity and musculoskeletal conditions: a systematic review.
Chou R, Peterson K, Helfand M
J Pain Symptom Manage 2004 Aug;28(2):140-75. doi: 10.1016/j.jpainsymman.2004.05.002. PMID: 15276195

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