Symptoma

Autosomal Recessive Spastic Paraplegia Type 53

Autosomal Recessive Spastic Paraplegia 53

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

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]

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]

  • Failure to Thrive

    Related phenotypes are failure to thrive and clonus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the VPS37A gene on chromosome 8p22. [malacards.org]

    […] to thrive, immunocompetence, family history, and trend toward worsening or improvement. [aetna.com]

  • Muscle Spasm

    Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [uniprot.org]

  • 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]

  • Hyperpigmentation

    […] consistent with any of the following: A relative with a known deleterious STK11 (LKB1) gene mutation; or A clinical diagnosis of PJS based on at least 2 of the following features: At least 2 PJS-type hamartomatous polyps of the small intestine; Mucocutaneous hyperpigmentation [aetna.com]

  • Onset in Infancy or Childhood

    Marinesco-Sjögren syndrome: Marinesco-Sjögren syndrome is a rare disorder with onset in infancy or childhood. Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ]. [wjgnet.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]

  • 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]

  • Abnormal Gait

    Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [13] Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling [ipfs.io]

    Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals with HSP can experience extreme fatigue associated with central nervous system [en.wikipedia.org]

    At the extremes are asymptomatic patients with pyramidal signs in the lower limbs with a normal or only slightly abnormal gait and a few patients who are chairbound or bedridden. 71 94 There is marked variability in the age at onset of symptoms in chromosome [jnnp.bmj.com]

    Gait, and Distinctive Facial Features. [ddduk.org]

  • Clonus

    Related phenotypes are failure to thrive and clonus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the VPS37A gene on chromosome 8p22. [malacards.org]

    Causes List for Clonus List of possible causes of Clonus or similar symptoms may include: 2 Absence epilepsy (myoclonus) Action myoclonus-renal failure syndrome (myoclonus) Action myoclonus-renal failure (myoclonus) Adenylosuccinase deficiency (Myoclonus [familydiagnosis.com]

    Primary lateral sclerosis The age of onset for primary lateral sclerosis (PLS) is usually between 40 and 60 years, with spasticity in the legs accompanied by hyperactive deep tendon reflexes, clonus, and Babinski sign. [emedicine.medscape.com]

  • Vertigo

    Migrainous Vertigo Migrainous vertigo is a term used to describe episodic vertigo in patients with a history of migraines or with other clinical features of migraine. Approximately 20 to 33 % of migraine patients experience episodic vertigo. [aetna.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]

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

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

Treatment of sporadic inclusion body myositis with an antibody that inhibits type II activin receptors. Neurology. 2014;83(24):2239-46 [nrcaz.com]

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]

Identification of the specific mutation concerned is essential to establishing a prognosis and providing satisfactory treatment and proper genetic counselling. [elsevier.es]

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]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [elsevier.es]

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]

In 1979, the class began to receive hurricane bows beginning with USS Bagley, the modification heightened the bow section, adding bulwarks and spray strakes to prevent burrowing into on-coming seas and better protect the forecastle armament. [wikivisually.com]