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X-linked Spastic Paraplegia Type 16

X-Linked Spastic Paraplegia 16


Presentation

  • Concise Neurology presents neurology content in a logical sequence within each of ten chapters.[books.google.es]
  • 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]
  • And remember to present the financial review report to the board of directors at the first meeting following the review and again at the General Membership where your local unit’s President will ask that it be officially adopted by the body.[hcc-pta.org]
  • The risk of an individual inheriting the abnormal gene depends on the mode of transmission and whether the mutated gene is present on a sex chromosome or an autosome.[encyclopedia.com]
  • If the production of the normal or the abnormal transcript were gender dependent, it might provide an explanation for the sex difference observed in the present family.[jmg.bmj.com]
Plethora
  • Chapters , 24 abr. 2013 - 732 páginas Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological[books.google.es]
Tachycardia
  • […] dysplasia Missouri type BOR-Duane hydrocephalus contiguous gene syndrome Pelger-Huet anomaly Spastic paraplegia 32 Congenital bile acid synthesis defect, type 2 Oto-palato-digital syndrome type 2 High molecular weight kininogen deficiency His bundle tachycardia[checkrare.com]
  • Mental retardation, autosomal dominant 10 614256 602911 CAD 2p23.3 Epileptic encephalopathy, early infantile, 50 616457 114010 Autosomal recessive CALM1 14q32.11 Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 114180 Autosomal dominant[mnglabs.com]
Lower Extremity Spasticity
  • Get Update Overview The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {5:Fink et al. (1996)} and {4:Fink (1997)[diseaseinfosearch.org]
  • 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]
  • Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease.[reference.md]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
  • Spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by lower extremity spasticity and weakness.[blueprintgenetics.com]
Hyperreflexia
  • […] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia[slideshare.net]
  • Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign.[journals.plos.org]
  • Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A[centogene.com]
  • All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia[ajnr.org]
  • Diagnosis HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia[rarediseases.org]
Shuffling Gait
  • The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes.[diseaseinfosearch.org]
  • MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome 0 *Intellectual Disability *Spastic Paraplegia, Hereditary.[reference.md]
  • gait and adducted thumbs) syndrome, spastic paraplegia 1) neural cell adhesion molecule L1 L1CAM CAML1 CD171 HSAS HSAS1 MASA MIC5 S10 SPG1 308840 6470 lysine demethylase 5C DXS1272E XE169 KDM5C JARID1C MRX13 SMCX 314690 11114 lysosomal trafficking regulator[ukgtn.nhs.uk]
  • XL 47 55 KIAA0196 Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome) AD/AR 15 18 KIF1A Spastic paraplegia, Neuropathy, hereditary sensory, Mental retardation AD/AR 63 42 KIF5A Spastic paraplegia AD 18 62 L1CAM Mental retardation, aphasia, shuffling[blueprintgenetics.com]
Babinski Sign
  • Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign.[journals.plos.org]
Forgetful
  • When preparing your budget for next year, don’t forget about your local PTA unit’s Bonding, Liability, and Directors and Officers Insurance for the 2017-2018 school year.[hcc-pta.org]

Workup

  • Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present.[journals.plos.org]

Treatment

  • Virtually every topic of interest to clinicians is covered in one or two pages to facilitate efficient review of the core concepts in diagnosis and treatment for each syndrome or disease.[books.google.es]
  • Treatment Treatment Options: Mobility devices and physical therapy can be helpful, especially in younger individuals.[disorders.eyes.arizona.edu]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • For people with HSP who experience bladder control issues, treatment with oxybutynin might help to relieve bladder spasticity.[disabled-world.com]
  • 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]

Prognosis

  • Prognosis 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.[ipfs.io]
  • 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]
  • Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions.[rarediseases.org]
  • Prognosis This varies widely, but most often HSP is compatible with a normal life expectancy. The rate of progression varies considerably and is influenced by the mode of inheritance.[encyclopedia.com]

Etiology

  • […] neighboring pages will rapidly refresh the position of the clinically relevant thrombophilias in relation to the coagulation pathway, indications for lifelong anticoagulation, causes of hyperhomocysteinemia, and the bare bones of the most important etiologies[books.google.es]
  • Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology.[oxfordmedicine.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]
  • MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues.[journals.plos.org]

Epidemiology

  • Recessive Epidemiology: Most Caucasian; 10 patients Clinical Onset age: 8 months to 7 years Extrapyramidal Dystonia Rigidity Choreoathetosis Cerebellum: Ataxia; Nystagmus Spasticity Mental development Poor speech Mental deficiency: Mild to Severe Other[neuromuscular.wustl.edu]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
  • Ruano L, Melo C, Silva MC, Coutinho P: The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014;42:174-183.[karger.com]
  • Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000[ipfs.io]
  • The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • The book presents higher level content than the student "In a Page" text, covers each topic in more depth, and addresses issues related to pathophysiology and neuropathology of diseases.[books.google.es]
  • 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]
  • Such ï ndings could evolve to become a valuable parameter, together with neuroimaging and other biomarkers, to help better understand the pathophysiology of the disease. Author contributions.[redalyc.org]

Prevention

  • . - Not having an iron core in the rotor prevents cogging caused by magnetic induction; hence the rotation is smooth, with minimum noise and vibration. - By utilizing rare earth magnet with high magnetic properties together with a rotor in basket configuration[namikisingapore.com.sg]
  • 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]
  • Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores.[encyclopedia.com]
  • The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP.[ipfs.io]

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