[…] 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]

• Hyperreflexia

  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]

  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]

  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]

  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

  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]

  Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness. [asperbio.com]

  Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. [ebi.ac.uk]

  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]

  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]

  The original description of hereditary spastic paraplegia was made by Strümpell in 1880. 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]

  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]

  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]

• Babinski Sign

  Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign. [bmcmedgenet.biomedcentral.com]

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [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]

• Lower-Limb Vibratory Sense 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 vibratory sense in the lower extremities [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]

Treatment is focused on alleviating symptoms and may include: [3] Medications ... ... [familydiagnosis.com]

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]

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]

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 - 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]

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 [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]

9p13 SPG48 : AP5Z1; 7p22 SPG 62 : ERLIN1; 10q24 SPG 75 : MAG; 19q13 SPG 76 : CAPN1; 11q13 SPG 79 : UCHL1; 4p13 Spastic Ataxia 1, Hereditary (SPAX1) 21 ● Vesicle-related membrane protein 1 (VAMP1; Synaptobrevin; SYB1) ; Chromosome 12p13.31; Dominant Epidemiology [neuromuscular.wustl.edu]

Consequently, they are often approached together in epidemiological studies. [karger.com]

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]

[…] motor neuron disease and multiple sclerosis in the province of Palermo in southern Italy Articolo su rivista Vai 2002 Impact of sociodemographic characteristics on cognitive performance in an elderly sicilian population Articolo su rivista Vai 2001 Epidemiology [unipa.it]

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]

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]

Prevention - Spastic paraplegia 6- autosomal dominant Not supplied. [checkorphan.org]

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]