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Autosomal Dominant Spastic Paraplegia Type 9A



  • 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.de]
  • In addition, some patients present without a family history.[link.springer.com]
  • Six additional families have specific complex presentations, each of which is unique in the present series.[jamanetwork.com]
  • In severe form of Cervical Myelopathy causes muscle weakness in all 4 limbs with sensory disturbances.Pathological reflexes are also present. Hoffmann's sign and Babinski's sign also can be seen.[explainmedicine.com]
Short Stature
  • Disease Ontology Browser hereditary spastic paraplegia 9A ( DOID:0110824 ) Alliance: disease page Synonyms: AD-SPG9A; autosomal dominant complex spastic paraplegia type 9A; autosomal dominant spastic paraplegia 9A; Cataracts motor neuropathy-short stature-skeletal[informatics.jax.org]
  • Most common symptoms of SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Microcephaly More info about SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B SOURCES[mendelian.co]
  • 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).[ncbi.nlm.nih.gov]
  • Slavotinek AM, Pike M and Mills K (1996) Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? American Journal of Human Genetics 62: 42–47.[els.net]
  • The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6].[explainmedicine.com]
  • All patients had, by definition, hyperreflexia and spasticity of the lower limbs, while weakness was present in only 53.8%.[jamanetwork.com]
  • 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]
  • Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.[ncbi.nlm.nih.gov]
  • Splice Site Mutation Hereditary Spastic Paraplegia Exon Splice Enhancer Autosomal Dominant Form Background Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterised by progressive spasticity, weakness and hyperreflexia[bmcmedgenet.biomedcentral.com]
Babinski Sign
  • Hoffmann's sign and Babinski's sign also can be seen. Type III syndrome is characterized by neck pain which radiates to the medial scapula, chest wall, shoulder area, or head.[4].[explainmedicine.com]
  • This is called a positive Babinski sign (Figure 6.2). Interestingly, the positive Babinski sign is normal in infants for the first 2 years of life.[nba.uth.tmc.edu]
  • 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]
  • ., Principles of Neurology, 6th ed, p272) Babinski sign MedGen UID: 19708 • Concept ID: C0034935 • Finding A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the foot is stroked[ncbi.nlm.nih.gov]
  • Clinically it is divided into a 'pure' or uncomplicated form with progressive spasticity as major symptom, associated with brisk reflexes, muscle weakness, positive Babinski's sign and urinary urgency as well as a 'complicated' form accompanied with other[bmcmedgenet.biomedcentral.com]
Abnormal Gait
  • Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia . [10] Individuals with HSP can experience extreme fatigue associated with central nervous[en.wikipedia.org]
  • As a result, patients often develop abnormal gait and stances to compensate. For example, the feet are often spaced widely apart when the patient stands still, as this provides a more stable base to maintain balance.[nba.uth.tmc.edu]
Neurologic Manifestation
  • Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.de]
  • HSPs are traditionally classified as ‘‘pure’’ or ‘‘complicated’’ forms, depending on whether or not the patient presents additional neurological and extra-neurological manifestations [3].[slideheaven.com]
Lower Extremity Spasticity
  • The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals[centogene.com]


  • 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]


  • 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.de]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]


  • 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]
  • The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families.[jamanetwork.com]
  • PMID: 16705687 Prognosis Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ Neurogenetics 2016 Oct;17(4):265-270. Epub 2016 Sep 28 doi: 10.1007/s10048-016-0495-z.[ncbi.nlm.nih.gov]


  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.de]
  • Progressive multiple sclerosis MS is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system of unknown etiology. Peak age of onset in Primary progressive MS is around 40 years.[explainmedicine.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]
  • Etiology World Neurosurg 2018 Aug;116:e476-e484. Epub 2018 May 16 doi: 10.1016/j.wneu.2018.05.008.[ncbi.nlm.nih.gov]


  • Pugliatti M, Rosati G, Carton H et al (2006) The epidemiology of multiple sclerosis in Europe. Eur J Neurol 13:700–722 20.[slideheaven.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. [31] A Norwegian study of more than 2.5[en.wikipedia.org]
  • Genetic counselling is particularly challenging because of genetic heterogeneity and should take in consideration pattern of inheritance, geographical epidemiology and clinical evaluation with a multidisciplinary approach.[els.net]
  • Hereditary ataxias and spastic paraplegias in Cantabria, Spain: an epidemiological and clinical study. Brain. 1991;114855- 866 Google Scholar Crossref 24.[jamanetwork.com]
  • Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution


  • 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.de]
  • This led to a better pathophysiological characterization of rare movement disorders and also to the fact that many phenotypical overlaps could be found between different diseases.[readbyqxmd.com]
  • 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]


  • 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]
  • It gives diagnostic certainty, prevents further unnecessary investigations and opens the possibility of predictive and prenatal testing.[link.springer.com]
  • To prevent further confusion the term HMSN type V should no longer be used. This study and further molecular genetic analyses suggest that families with the HMSN V phenotype should be subsumed under the complicated forms of HSP.[thieme-connect.com]
  • 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]
  • Evidence on the effects of 5-HTP for the prevention or treatment of migraines in adults is unclear.[webmd.com]

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