HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis.[journals.lww.com]
Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings.[jnnp.bmj.com]
Hypertrophic cardiomyopathy and diabetes are common presentations of the condition.[elsevier.es]
Dysarthria and bladder dysfunction are often present. Cerebellar ataxia is common and some patients first present with this as a prominent sign in the first and second decades.[disorders.eyes.arizona.edu]
Patients with SPG3A were more likely to present at a younger age, with a mean age at symptom onset of 10.1 (SE 4.4) years ( p 0.022) ( figure 3 ).[ng.neurology.org]
., University of Iowa - Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University - Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center - Infectious Diseases of the[books.google.com]
Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain,[ghr.nlm.nih.gov]
To further enhance the scope and quality of this new edition, the following Section Editors provided oversight of their respective sections: - MovementDisorders-Joel Perlmutter, Washington University - Dementias-David Knopman, Mayo Clinic - Motorneuron[books.google.com]
MovementDisorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC.[en.wikipedia.org]
One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and musclespasticity reduction.[rarediseases.org]
Treatment for HSP is presently limited to symptomatic reduction of musclespasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy.[link.springer.com]
OMIM : 57 Autosomal recessive spasticparaplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spasticparaplegia and cerebellar signs.[malacards.org]
Spasticparaplegia type 11 is a complex hereditary spasticparaplegia. Like all hereditary spasticparaplegias, spasticparaplegia type 11 involves spasticity of the leg muscles and muscle weakness.[ghr.nlm.nih.gov]
AD/AR 6 7 SPAST Spasticparaplegia AD 193 723 SPG11 Spasticparaplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease AR 162 274 SPG20 Spasticparaplegia (Troyer syndrome) AR 9 7 SPG7 Spasticparaplegia AR 69 111 SPR Dystonia, Dopa-responsive[blueprintgenetics.com]
Hereditary spasticparaplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 ; 7 : 1127 - 1138. 2. Fink, JK. Hereditary spasticparaplegia overview. In: Pagon RA, Adam MP, Ardinger HH, et al ., editors. GeneReviews.[cambridge.org]
., 2013). (614409) MalaCards based summary : Spastic Paraplegia 46, Autosomal Recessive, also known as spg46 , is related to hereditary spastic paraplegia and paraplegia , and has symptoms including cerebellar ataxia and abnormal pyramidal signs .[malacards.org]
Keywords: Recessive ataxia Friedreich ataxiaAtaxia-telangiectasia Refsum disease Wilson disease Niemann-Pick disease type C Resumen Introducción Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo[elsevier.es]
Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia.[karger.com]
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity . Am J Hum Genet. 2013 Feb 7;92(2):245-51. PubMed PMID: 23332917.[disorders.eyes.arizona.edu]
(SCAs), Friedreich ataxia, spastic ataxia of Charlevoix-Saguenay, etc.[centogene.com]
., 2013). (614409) MalaCards based summary : Spastic Paraplegia 46, Autosomal Recessive, also known as spg46 , is related to hereditary spastic paraplegia and paraplegia , and has symptoms including cerebellarataxia and abnormal pyramidal signs .[malacards.org]
Mutations in GBA2 cause autosomal-recessive cerebellarataxia with spasticity . Am J Hum Genet. 2013 Feb 7;92(2):245-51. PubMed PMID: 23332917.[disorders.eyes.arizona.edu]
Palau F, Espinós C: Autosomal recessive cerebellarataxias. Orphanet J Rare Dis 2006;1:47. le Ber I, Brice A, Dürr A: New autosomal recessive cerebellarataxias with oculomotor apraxia. Curr Neurol Neurosci Rep 2005;5: 411-417.[karger.com]
Familial cerebellarataxia with muscle coenzyme Q10 deficiency. Neurology, 56 (2001), pp. 849-855 [35] M.C. Moreira, S. Klur, M. Watanabe, A.H. Nemeth, I. le Ber, J.C. Moniz, et al.[elsevier.es]
Affiliated tissues include brain , and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the GBA2 gene on chromosome 9p.[malacards.org]
The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present.[disorders.eyes.arizona.edu]
Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.org]
People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia[ghr.nlm.nih.gov]
[…] limb muscle weakness Decreased arm strength Weak arm [ more ] 0003484 Upper limb spasticity Uncontrollable movement in upper arms 0006986 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Hyperreflexia[rarediseases.info.nih.gov]
Affiliated tissues include brain , and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the GBA2 gene on chromosome 9p.[malacards.org]
The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present.[disorders.eyes.arizona.edu]
Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.org]
People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia[ghr.nlm.nih.gov]
[…] limb muscle weakness Decreased arm strength Weak arm [ more ] 0003484 Upper limb spasticity Uncontrollable movement in upper arms 0006986 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Hyperreflexia[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]
Ali Fatemi Oxford University Press , 2016 - 1398 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[books.google.com]
TreatmentTreatment Options: No effective treatment is known for the neurological deficits but cataract surgery may be beneficial for visually significant cataracts.[disorders.eyes.arizona.edu]
PROGNOSIS: Visual loss in DOA may progress during puberty until adulthood, with very slow subsequent chronic progression in most of the cases.[ncbi.nlm.nih.gov]
Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited.[nature.com]
Prognosis — probable outcome of the disease. Resources — bibliographies or contact information are provided for books, Web sites, national organizations and support groups. Symptoms — physical and mental signs of the disorder.[cengage.com]
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]
Consequently, they are often approached together in epidemiological studies.[karger.com]
EPIDEMIOLOGY: The prevalence of the disease varies from 1/10000 in Denmark due to a founder effect, to 1/30000 in the rest of the world.[ncbi.nlm.nih.gov]
Relevant External Links for CYP2U1 Genetic Association Database (GAD) CYP2U1 Human Genome Epidemiology (HuGE) Navigator CYP2U1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CYP2U1 No data available for Genatlas for CYP2U1 Gene CYP2U1[genecards.org]
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [ ] 7.[moldiag.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]
MANAGEMENT: To date, there is no preventative or curative treatment in DOA; severely visually impaired patients may benefit from low vision aids.[ncbi.nlm.nih.gov]
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]
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.[karger.com]