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Autosomal Dominant Spastic Paraplegia Type 6

FSP3


Presentation

  • Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.[orpha.net]
  • The full spectrum of diseases involving spasticity in adults and children and the unique diagnostic and management challenges they present is addressed by experienced clinicians.[books.google.com]
  • […] half of the patients presenting missense mutations.[jnnp.bmj.com]
  • HSP can be classified as pure or uncomplicated if no additional findings are present (2). Age of onset of HSP can range from early childhood to late adulthood.[dnatesting.uchicago.edu]
Cape Verde
  • Cape Verde : Boa Vista Cape Verde, Sal, etc. Caribbean Netherlands :, etc. Cayman Islands : George Town, Grand Cayman, West Bay, etc. Central African Republic : Bangui, etc. Chad : N'Djamena, etc.[maria-online.com]
Long Arm
  • This process is due to mutations in the gene NIPA1, located on the long arm of chromosome 15 (15q11.2). This gene encodes a transporter magnesium is associated with endosomes and the cell surface in a variety of neuronal and epithelial cells.[ivami.com]
  • The deletion of the proximal long arm of chromosome 15 embracing TUBGC5, NIPA1, NIPA2 and CYFIP1 is well recognised in Prader-Willi syndrome, a complex multisystem disorder that is characterised by neonatal hypotonia, hyperphagia, short stature, obesity[omicsonline.org]
Onset in Adolescence
  • 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
  • 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]
  • Orpha Number: 100988 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 and extensor plantar responses, as well[rarediseases.info.nih.gov]
Spastic Gait
  • gait Spastic walk 0002064 Urinary bladder sphincter dysfunction 0002839 Urinary urgency Overactive bladder 0000012 Variable expressivity 0003828 Showing of 26 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging[rarediseases.info.nih.gov]
Babinski Sign
  • Related phenotypes are babinski sign and talipes equinovarus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene on chromosome 10q24.[malacards.org]
  • Showing of 26 80%-99% of people have these symptoms Babinski sign 0003487 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Impaired vibratory sensation Decreased vibration sense Decreased vibratory sense Diminished vibratory[rarediseases.info.nih.gov]
Lower Extremity Spasticity
  • 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.[ebi.ac.uk]
  • Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.[asperbio.com]
  • 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]
  • 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]
  • extremity spasticity and weakness.[flybase.org]
Lower Limb Vibratory Sense Decreased
  • limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Insidious onset Gradual onset 0003587[rarediseases.info.nih.gov]

Workup

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

  • A Doody's Core Title 2012 Spasticity: Diagnosis and Management is the first book solely dedicated to the diagnosis and treatment of spasticity.[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]
  • Treatment - Spastic paraplegia 6- autosomal dominant Not supplied. Resources - Spastic paraplegia 6- autosomal dominant Not supplied.[checkorphan.org]
  • 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]

Prognosis

  • Prognosis - Spastic paraplegia 6- autosomal dominant Not supplied. Treatment - Spastic paraplegia 6- autosomal dominant Not supplied. Resources - Spastic paraplegia 6- autosomal dominant Not supplied.[checkorphan.org]
  • Determining the molecular basis of disease using genetic testing can be useful in predicting prognosis and disease course, and can aid in identification of at-risk family members.[dnatesting.uchicago.edu]
  • 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 [ 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 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

  • Hereditary Spastic Paraplegia Etiology HSP is a highly genetically heterogeneous group of disorders (4). 70-80% of HSP is inherited in an autosomal dominant manner, and the majority of dominant HSP is classified as uncomplicated or pure HSP (2).[dnatesting.uchicago.edu]
  • 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]
  • Tijana Copf, Impairments in dendrite morphogenesis as etiology for neurodevelopmental disorders and implications for therapeutic treatments, Neuroscience & Biobehavioral Reviews, 10.1016/j.neubiorev.2016.04.008, 68, (946-978), (2016).[doi.org]
  • MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues.[journals.plos.org]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.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. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.[cambridge.org]
  • Epidemiology The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors.[jnnp.bmj.com]
  • 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]
  • Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto and Shoji Tsuji, Molecular epidemiology[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • Spasticity: Diagnosis and Management clearly defines the process for the diagnosis of spasticity, the basic science behind its pathophysiology, the measurement tools used for evaluation, and reviews the available treatment options.[books.google.com]
  • DESIGN This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology, and biomarkers.[clinicaltrials.gov]
  • 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]
  • Neurosurgery , London , UK 3 Department of Neurology and Neurosurgery , Institute of Emergency Medicine , Chisinau , Republic of Moldova 4 Division of Pathology , Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico , Milano , Italy 5 Department of Pathophysiology[jnnp.bmj.com]

Prevention

  • Prevention - Spastic paraplegia 6- autosomal dominant Not supplied.[checkorphan.org]
  • Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier.[nhs.uk]
  • 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]
  • For patients with walking (gait) problems, canes, walkers, and wheelchairs will facilitate mobility and help to prevent falling and subsequent injury. A number of drugs are available to reduce some of the symptoms of HSP.[medschool.lsuhsc.edu]

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