When the computer's generated present target position equals the actual present target position established by the director, the computer can predict a future target position. [uss-king.com]

Acronym SPG53 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings. [jnnp.bmj.com]

Asymptomatic patients are also present. [emedicine.medscape.com]

Hypertrophic cardiomyopathy and diabetes are common presentations of the condition. [elsevier.es]

• Asymptomatic

  The phenotype was one of pure HSP with a wide range of disease severity with some patients requiring a wheelchair whereas others remained asymptomatic at the age of 40 years. [jnnp.bmj.com]

  Pulmonary AVMs (PAVMs) can be asymptomatic or manifest as dyspnea and hypoxemia secondary to shunting. [aetna.com]

  The parents (II-1 and 2), who were first cousins, were neurologically asymptomatic. Arrow indicates the proband, and dots indicate the persons who permit analysis of their DNAs. [intechopen.com]

  Asymptomatic patients are also present. [emedicine.medscape.com]

  This issue is especially relevant in studies based on genetic centre records, where clinical inclusion criteria are clearly needed to differentiate clinically affected patients from asymptomatic or presymptomatic carriers. [karger.com]

• Pain

  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]

  Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to co-morbid states. J Clincial neuromuscular diseases 2008;9:379-384 49. [nrcaz.com]

  Postpolio syndrome Most patients with postpolio syndrome (PPS) present with new, slowly progressive muscle weakness, frequently accompanied by muscle pain (myalgias) and fatigue, which can occur in both previously affected and unaffected muscles. [emedicine.medscape.com]

  […] genetic testing for myotonic dystrophy type 1 (DM1) (DMPK gene) and myotonic dystrophy type 2 (DM2) (CNBP gene) when the following criteria are met: Individual to be tested exhibits characteristic features of DM1 or DM2 (eg, muscle weakness, muscle pain [aetna.com]

• Swelling

  Tendon Reflex (PTR) − ++ Achilles Tendon Reflex (ATR) + − − Babinski sign + + Vibration sense Normal Normal Sphincter involvement − − Mini-Mental State Examination (MMSE) 16/30 25/30 Lower limb NCV FWCV decreased Decreased Sural nerve biopsy Axonal swelling [intechopen.com]

  Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488. [More Information] [sydney.edu.au]

• Inflammation

  Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002, 125 :551–561. PubMed CrossRef Google Scholar 41. [link.springer.com]

  Postpolio syndrome In postpolio syndrome (PPS), the spinal cord demonstrates active chronic inflammation with perivascular lymphoplasmacytic infiltrate in the anterior horns and leptomeninges. [47] The cord gray matter is gliotic, with axonal spheroids [emedicine.medscape.com]

• Pallor

  There is diffuse myelin pallor of crossed and uncrossed corticospinal tracts. In addition, the gracile fasciculi in the centre of the dorsal columns show prominent myelin pallor. Anterior horn cells are normal in number and morphology. [jnnp.bmj.com]

• Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Hypertrichosis

  SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. [uniprot.org]

  SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. {ECO:0000269 PubMed:22717650}. [genecards.org]

  SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. {ECO:0000269|PubMed: 22717650 }. [web.expasy.org]

• Urticaria

  UpToDate reviews on "Cold urticaria" (Maurer, 2011) and "Cryopyrin-associated periodic syndromes and related disorders" (Nigrovic, 2011) do not mention the use of genetic testing. [aetna.com]

• Spastic Paraplegia

  UniProtKB/Swiss-Prot : 75 Spastic paraplegia 53, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. [malacards.org]

  Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases. Mutations in the ATL1 gene cause spastic paraplegia type 3A. [ghr.nlm.nih.gov]

  paraplegia 42, autosomal dominant AD/AR 6 7 SPAST Spastic paraplegia AD 193 723 SPG11 Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease AR 162 274 SPG20 Spastic paraplegia (Troyer syndrome) AR 9 7 SPG7 Spastic paraplegia [blueprintgenetics.com]

  9 Pyruvate Carboxylase Deficiency Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 34, X-Linked [familydiagnosis.com]

• Dystonia

  Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia AD/AR 48 240 GJC2 Spastic paraplegia, Lymphedema, hereditary, Leukodystrophy, hypomyelinating AD/AR 26 57 HACE1 Spastic paraplegia and psychomotor retardation [blueprintgenetics.com]

  […] type 13 Familial partial lipodystrophy due to AKT2 mutations Hypoinsulinemic hypoglycemia and body hemihypertrophy Pelizaeus-Merzbacher-like due to HSPD1 mutation CADDS Peters anomaly Severe motor and intellectual disabilities-sensorineural deafness-dystonia [csbg.cnb.csic.es]

  Pure cerebellar syndrome does occur, although it is more common for patients also to present symptoms secondary to the involvement of other systems, such as intellectual disability, cognitive impairment, epilepsy, movement disorders (dystonia, chorea, [elsevier.es]

  […] who have no affected relative with early onset dystonia. [aetna.com]

  […] beta-glucosidase glucosidase, beta (bile acid) 2 glucosidase, beta, acid 2 glucosylceramidase, nonlysosomal spastic paraplegia 46 (autosomal recessive) GBA2 SPG46 609471 18986 glutamate decarboxylase 1 0 GAD1 GAD 605363 4092 GTP cyclohydrolase 1 dopa-responsive dystonia [ukgtn.nhs.uk]

• Dysarthria

  […] 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) of the lower limbs; speech difficulties (dysarthria [ghr.nlm.nih.gov]

  66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [jnnp.bmj.com]

  There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]

  Patients with spastic dysarthria as an initial symptom of PLS are also described. In contrast to ALS, the LMNs remain intact, and thus, no amyotrophy is observed. [emedicine.medscape.com]

  These include an ataxia syndrome with onset in children or young adults and associated with sensory neuropathy, dysarthria, and ophthalmoplegia. [elsevier.es]

• Spastic Gait

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [ipfs.io]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

  Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121. [els.net]

  Keywords Hereditary Spastic Paraplegia Spastic Paraparesis Primary Lateral Sclerosis Spastic Gait Hereditary Spastic Paraparesis These keywords were added by machine and not by the authors. [link.springer.com]

• Hyperreflexia

  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]

  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]

  Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

  All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia [ajnr.org]

  The essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower limbs, with extensor plantar responses. [emedicine.medscape.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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

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]

There is no specific treatment for AT. [elsevier.es]

They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]

Prognosis 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. [ipfs.io]

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]

This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS. [emedicine.medscape.com]

Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture. [jnnp.bmj.com]

Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]

Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [^] 26. [moldiag.com]

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.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]

Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]

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

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]

Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 [ipfs.io]

Epidemiology The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors. [jnnp.bmj.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]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.com]

Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935. [sydney.edu.au]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]

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]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

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]