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Autosomal Dominant Spastic Paraplegia Type 4



  • […] spastic paraplegia type 4 Disease definition A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present[orpha.net]
  • Results: Patients differ in several categories depending on the type of mutation present.[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]
  • Some genotypes tended to present earlier than others, and simplex cases tended to present later than those with clear inheritance patterns, but all types had a wide range of onset age.[news-medical.net]
Short Arm
  • This process is due to mutations in the gene SPAST, located on the short arm of chromosome 2 (2p24-p21)., Encoding spastin protein.[ivami.com]
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am J Med Genet. 1997 ; 74 ( 1 ): 26 - 36. 13.[cambridge.org]
  • The majority of the families where the link has been established are associated with the SPG4 gene location on the short arm of chromosome 2. The evidence is suggestive that the SPG4 gene regulates production of a protein referred to as, 'spastin.'[disabled-world.com]
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.[ncbi.nlm.nih.gov]
Proximal Muscle Weakness
  • muscle weakness in the lower limbs 54% (113/208) Distal muscle weakness in the lower limbs 36% (64/179) Distal muscle wasting 9% (16/176) Decreased vibration sense at ankles (abolished) 58% (111/208) (11% 24/208) Urinary urgency/incontinence 38% (74[academic.oup.com]
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]
  • Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.[ncbi.nlm.nih.gov]
  • People with this disorder may also have hyperreflexia, spasms ankles, lifting arch and decreased bladder control. Spastic paraplegia type 4 usually affects nerve and muscle in the lower half of the body function.[ivami.com]
  • 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]
  • The clinical features were hyperreflexia in all four limbs, spasticity of the lower extremities, impaired vibration sense, mild… CONTINUE READING[semanticscholar.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
  • Spastic paraplegia 4, autosomal dominant Get Update Overview The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and[diseaseinfosearch.org]
  • Chapter First Online: 27 June 2014 Abstract Spastic paraplegia or paraparesis (SPG) is a group of genetically heterogeneous disorders, characterized predominantly by progressive lower extremity spasticity and weakness, with either autosomal dominant and[link.springer.com]
  • 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]
Spastic Gait
  • The clinical phenotype includes asymptomatic patients, mildly affected individuals with spastic gait but able to walk independently, and severely affected patients who were wheelchair bound.[link.springer.com]
  • He described “a pure spastic movement disorder of the legs” in 2 brothers who developed a spastic gait at the ages of 37 and 56 years.[medlink.com]
  • gait Spastic walk 0002064 Spastic paraplegia 0001258 Urinary bladder sphincter dysfunction 0002839 Urinary incontinence Loss of bladder control 0000020 Urinary urgency Overactive bladder 0000012 Showing of 18 Last updated: 12/1/2018 Making a diagnosis[rarediseases.info.nih.gov]
  • Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet[rarediseases.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]
Babinski Sign
  • Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign.[bmcmedgenet.biomedcentral.com]
  • sign 0003487 Distal sensory impairment Decreased sensation in extremities 0002936 Hyperreflexia Increased reflexes 0001347 Impaired vibration sensation in the lower limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased[rarediseases.info.nih.gov]
  • Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched[sp-foundationorg.presencehost.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]
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 Knee clonus 0011449 Lower limb muscle[rarediseases.info.nih.gov]


  • 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]


  • It also reveals how the drug epothilone D restores cell function to normal, thus identifying it as a potential treatment for this form of HSP.[hspersunite.org.au]
  • The information obtained from validated rating scales (SPRS and SF-36), TMS, and serum biomarkers, will allow for the development of treatment trials.[clinicaltrials.gov]
  • 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 is focused on alleviating symptoms and may include: [3] Medications ... ...[familydiagnosis.com]
  • 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 - 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]
  • 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: 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]


  • 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]
  • Background : Mutations in SPG4/ SPAST represent the most frequent molecular etiology in an autosomal dominant form of Hereditary Spastic Paraplegia (HSP).[mdsabstracts.org]
  • Yet, mutations in SPG4/ SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases.[bmcmedgenet.biomedcentral.com]
  • […] associated with immediate pain relief, improved quality of sleep and improved mobility. 1 At this point, the preponderance of clinical research related to HSP remains early-stage, focused on gaining a deeper understanding of the disease process and its etiology[raredr.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]


  • 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]
  • 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]
  • Still, there is great uncertainty regarding their global epidemiology. Summary: Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies.[figshare.com]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
Sex distribution
Age distribution


  • DESIGN This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology, and biomarkers.[clinicaltrials.gov]
  • 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]
  • 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]
  • POLR3A 10q22.3 Autosomal recessive Hereditary spastic paraplegia: Pathophysiology The major feature of HSP is a length dependent axonal degeneration. These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis .[maria-online.com]


  • 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]
  • Prevention - Spastic paraplegia 6- autosomal dominant Not supplied.[checkorphan.org]
  • 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]
  • Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology.[figshare.com]
  • 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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