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Spastic paraplegia-nephritis-deafness syndrome

MedGen UID:
355816
•Concept ID:
C1866853
•
Disease or Syndrome
Synonym: SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008440
OMIM®: 182690
Orphanet: ORPHA2820

Definition

Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. [from ORDO]

Clinical features

From HPO
Focal segmental glomerulosclerosis
MedGen UID:
4904
•Concept ID:
C0017668
•
Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
See: Feature record | Search on this feature
Kidney disorder
MedGen UID:
9635
•Concept ID:
C0022658
•
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
See: Feature record | Search on this feature
IgA deposition in the glomerulus
MedGen UID:
892365
•Concept ID:
C4025827
•
Finding
The presence of immunoglobulin A deposits in the glomerulus.
See: Feature record | Search on this feature
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Spastic paraplegia
MedGen UID:
20882
•Concept ID:
C0037772
•
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic paraplegia-nephritis-deafness syndrome

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
Plants with neurotoxic potential in undernourished subjects.
Palmer VS, Tshala-Katumbay DD, Spencer PS
Rev Neurol (Paris) 2019 Dec;175(10):631-640. Epub 2019 Sep 18 doi: 10.1016/j.neurol.2019.07.015. PMID: 31542178
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
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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