[…] 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]

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]

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]

Results: Patients differ in several categories depending on the type of mutation present. [jnnp.bmj.com]

• Weakness

  […] as well as very mild proximal weakness and urinary urgency. [orpha.net]

  Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

  This means they have other symptoms in addition to the muscle weakness and spasticity. They may have a wide range of symptoms. [nhs.uk]

  Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Lower limb spasticity 0002061 Urinary urgency Overactive bladder 0000012 5%-29% of people have these symptoms Cognitive impairment Abnormality of cognition Cognitive [rarediseases.info.nih.gov]

• Pathologist

  PMID: 14681884 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

  We would also like to thank pathologists Dr. [link.springer.com]

• Muscle Weakness

  In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed (3). [dnatesting.uchicago.edu]

  […] stiffness 0008969 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Lower limb spasticity 0002061 Urinary urgency Overactive bladder 0000012 5%-29% of people have these symptoms Cognitive [rarediseases.info.nih.gov]

• Muscle Spasticity

  […] features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia 24, Autosomal Recessive: clonus, difficulty standing, muscle spasticity Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24 [malacards.org]

  Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. [sp-foundationorg.presencehost.net]

  Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness. [emedicine.medscape.com]

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

  SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. [rarediseases.info.nih.gov]

• Spastic Paraplegia

  Paraplegia familial spastic type 4 (Spastic paraplegia type 4 -SPG4-) - Gen SPAST. Paraplegia (or paraparesis) familial spastic type 4 (SPG4) is one of spastic paraplegia known as heritable genetic damage. [ivami.com]

  The objective of this study is to understand disease progression in these closely related forms of hereditary spastic paraplegia using validated rating scales such as the Spastic Paraplegia Rating Scale (SPRS), and Medical Outcomes Study Questionnaire [clinicaltrials.gov]

  Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Human phenotypes related to Spastic Paraplegia 24, Autosomal [malacards.org]

  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathologica, Vol. 126, Issue. 3, p. 307. CrossRef Google Scholar Fink, John K. 2013. [cambridge.org]

  Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. [ghr.nlm.nih.gov]

• Ataxia

  G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary spastic paraplegia G11.8 Other hereditary ataxias G11.9 Hereditary ataxia [icd10data.com]

  Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. [karger.com]

  […] maneuver Hydrocephalus: Some patients May be associated with: Townes-Brocks Syndrome External link Arnold-Chiari malformation + Hydromyelia Cerebellar vermis projects below foramen magnum (Arrow) From: Simon Kornberg Canine ACM + Hydromyeli a Spastic Ataxia [neuromuscular.wustl.edu]

  In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. [orpha.net]

• Seizure

  In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. [rarediseases.info.nih.gov]

• Hyperreflexia

  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]

  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]

  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]

  Other symptoms may include: [2] [1] Decreased ability to sense vibrations in the ankles Exaggerated reflexes (hyperreflexia) Ankle spasms High arches in the feet (pes cavus) Reduced bladder control Ataxia (lack of muscle control) Seizures Some individuals [rarediseases.info.nih.gov]

• 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]

  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]

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

  […] characterized by progressive, usually severe, lower extremity spasticity and weakness. [flybase.org]

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

Advances in Hereditary Sensory and Motor Neuropathy Research and Treatment: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about ZZZAdditional Research in a compact format. [books.google.es]

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]

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 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]

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]

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]

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]

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]