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Autosomal Dominant Spastic Paraplegia Type 17

Silver Syndrome


Presentation

  • 1 Russell-Silver syndrome with cleft palate: a case report. ( 30515601 ) 2018 2 Russell-Silver syndrome presenting with ambiguous genitalia. ( 27998648 ) Chang IF...Lee NC 2017 3 Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular[malacards.org]
  • Spastic paraplegia-amyotrophy of hands and feet Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood , Adolescent , Adult ICD-10: G11.4 OMIM: 270685 UMLS: C2931276 MeSH: - GARD: 4219 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Spastic paraplegia-amyotrophy of hands and feet Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 270685 UMLS: C2931276 MeSH: - GARD: 4219 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.[orpha.net]
  • HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis.[journals.lww.com]
Italian
  • The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci. 2008 Jun;29(3):189-91. doi: 10.1007/s10072-008-0937-y. Epub 2008 Jul 9. Rowland LP, Bird TD.[ghr.nlm.nih.gov]
  • […] hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. ( 18401025 ) Orlacchio A....Kawarai T. 2008 40 Silver syndrome: The complexity of complicated hereditary spastic paraplegia. ( 18490616 ) Rowland L.P....Bird T.D. 2008 41 The first Italian[malacards.org]
  • Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 2002; 59(9):1395-1401. 27. Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC.[siicsalud.com]
  • ., Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation, Neurol. Sci. , 2007, vol. 28, no. 4, pp. 171–174. doi 10.1007/s10072-007-0815-z CrossRef PubMed Google Scholar 9.[link.springer.com]
  • Novel and recurrent spastin mutations in a large series of SPG4 Italian families . Neuroscience Letters, Vol. 528, Issue. 1, p. 42. CrossRef Google Scholar Slavenburg, B. C. Busari, J. O. and Wennekes, M. J. 2007.[cambridge.org]
Pathologist
  • He is also now Associate Pathologist (Neuropathology) at St. Michael’s Hospital, Toronto. Dr. Bilbo is a past Chief Examiner, Section of Neuropathology, for the Royal College of Physicians and Surgeons of Canada.[books.google.com]
  • PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Lower Limb Muscle Atrophy
  • limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense.[malacards.org]
  • Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 17 Disease definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[orpha.net]
Myopathy
  • […] lymphoblastic leukemia Young adult-onset Parkinsonism LEOPARD syndrome Noonan syndrome Pilocytic astrocytoma Lymphangioleiomyomatosis Tuberous sclerosis Giant cell glioblastoma Gliosarcoma Cardiofaciocutaneous syndrome Chronic myeloid leukemia Inclusion body myopathy[csbg.cnb.csic.es]
  • […] polymicrogyria (BLCPMG) OCLN Baraitser-Winter syndrome ACTB, ACTG1 Bardet-Biedl Syndrom BBS1, BBS2, BBS10 Barth syndrome TAZ Bartter Syndrom CLCNKA, CLCNKB, BSND, KCNJ1, SLC12A1, CASR Beckwith-Wiedemann- Syndrom ME030-C3 benigne hereditäre Chorea NKX2-1 Bethlem myopathy[meduniwien.ac.at]
  • Bou for DNA preparation and lymphoblastoid cell lines, and the Association Française contre les Myopathies and the Association Strümpell-Lorrain for their help in the sample collection. To whom correspondence should be addressed.[academic.oup.com]
Torticollis
  • […] and Russell- Silver syndrome. ( 21204802 ) Petit F....Delobel B. 2012 26 Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan. ( 21410572 ) Weng H.J....Shih F.J. 2012 27 Torticollis[malacards.org]
Onset in Adolescence
  • ORPHA:100998 Synonym(s): SPG17 Silver syndrome Spastic paraplegia-amyotrophy of hands and feet Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood , Adolescent , Adult ICD-10: G11.4 OMIM: 270685 UMLS: C2931276 MeSH: - GARD: 4219 MedDRA[orpha.net]
  • ORPHA:100998 Synonym(s): SPG17 Silver syndrome Spastic paraplegia-amyotrophy of hands and feet Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 270685 UMLS: C2931276 MeSH: - GARD: 4219 MedDRA:[orpha.net]
  • ORPHA:100988 Synonym(s): SPG6 Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 600363 UMLS: C1838192 MeSH: C536866 GARD: 4928 MedDRA: - The documents contained in this web site are presented for[orpha.net]
Hyperreflexia
  • Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[malacards.org]
  • Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 17 Disease definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[orpha.net]
  • 60 Very frequent (99-80%) 8 difficulty standing 33 HP:0003698 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584[malacards.org]
  • Search Search for a rare disease Autosomal dominant spastic paraplegia type 6 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia[orpha.net]
Lower Extremity Spasticity
  • Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.[asperbio.com]
  • Clinical Features  Symptoms depend on the type of HSP inherited  Main feature progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles[slideshare.net]
  • Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal[genecards.org]
  • extremity spasticity and weakness.[flybase.org]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
Spastic Gait
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[en.wikipedia.org]
  • Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol 2004; 61(1):117-121. 24.[siicsalud.com]
  • Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus collasum in spastic gait gene 11 (SPG11). Arch Neurol 2004 ; 61 : 117 –21 Ohnishi J, Tomoda Y, Yokoyama K.[ajnr.org]
Babinski Sign
  • Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome[malacards.org]
Babinski Sign
  • Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome[malacards.org]

Workup

  • It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia[hspersunite.org.au]

Treatment

  • Most PNS disorders are secondary to other system disorders and may be responsive to treatment of the primary disease.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • 20082469 ) PeA aherrera M.S....Robinson W.P. 2010 31 Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. ( 20385510 ) Chopra M...Mowat D 2010 32 Effect of long-term growth hormone treatment[malacards.org]
  • However, HSPers report benefits from treatments as diverse as ankle / foot surgery where tendons are relocated, to fitness and specialised treatment from neurophysiotherapists for muscle strength and range of motion.[hspersunite.org.au]

Prognosis

  • Last updated: Dec 17, 2018 at 16:40 Name masatoyo nishizawa Published Papers Plain Text 1 2 3 4 [Clinical features of poor-prognosis patients with adult bacterial meningitis] Shimohata T, Yanagawa K, Tanaka K, Nishizawa M Rinsho shinkeigaku Clinical neurology[researchmap.jp]
  • Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals.[en.wikipedia.org]
  • Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture.[jnnp.bmj.com]

Etiology

  • […] syndrome. ( 24065356 ) Brioude F....Netchine I. 2013 23 Myoclonus-dystonia syndrome associated with Russell Silver syndrome. ( 23703955 ) Augustine E.F....Mink J.W. 2013 24 Limb lengthening in children with Russell-Silver syndrome: a comparison to other etiologies[malacards.org]
  • Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR).[karger.com]
  • Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.[ajnr.org]

Epidemiology

  • „Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.” Neuroepidemiology, 2002;21: 241-245.[tankonyvtar.hu]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
  • Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH: An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet 1994;46:347–351.[karger.com]
  • ., Epidemiological characteristics of hereditary spastic paraplegia in the Republic of Bashkortostan, Med. Genet. , 2013, vol. 12, no. 7, pp. 12–16. Google Scholar 4.[link.springer.com]
  • An epidemiological and clinical study . Brain . 1991 ; 114 (Pt 2 ): 855 - 66 . 3. Hazan , J , Fontaine , B , Bruyn , RP , Lamy , C , van Deutekom , JC , Rime , CS , et al.[cambridge.org]
Sex distribution
Age distribution

Pathophysiology

  • See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively[mayomedicallaboratories.com]
  • „New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.” J Neurol, 2011;258: 1594-602. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I.[tankonyvtar.hu]
  • Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis.[en.wikipedia.org]

Prevention

  • Treatment No specific treatment is known that would prevent, slow, or reverse HSP Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being 26. Gen. Spas ticity Oral Agents Foc.[slideshare.net]
  • Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being.[en.wikipedia.org]
  • The long nerves (axons) are prevented from doing their critical job of sending the right signals to control the muscles. HSP is classified as an upper motor neurone neurodegenerative disease.[hspersunite.org.au]
  • Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution.[karger.com]
  • Bjorkhem, Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One, 2013. 8(7): p. e68031. Martin, E.*, R. Schule*, K. Smets*, A. Rastetter, A. Boukhris, J.L. Loureiro, M.A.[hih-tuebingen.de]

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