Therefore, gait impairment is present in the vast majority of individuals with HSP. Urinary urgency is also a common symptom which can be an early presenting sign. [bmcresnotes.biomedcentral.com]

KIAA0725, SAMWD1, SPG54 Western blot Data presented on provider website ELISA Data presented on provider website Immunocytochemistry Data presented on provider website Provider product page for 109772 Antibody data Antibody Data Knockdown Reagents [0] [antibodypedia.com]

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]

Acronym SPG54 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Bob Tennant presents a history of the missionary work, cultures, and rhetoric of the Church of England in 1760-1870, when it was the predominant organizer of Protestant overseas missions. [books.google.ro]

• Short Stature

  The phenotype is characterized by early onset of spastic paraplegia, mental retardation, short stature and dysgenesis of the corpus callosum. [miami.pure.elsevier.com]

  Most common symptoms of SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Strabismus More info about SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 SOURCES [mendelian.co]

  stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Muscular dystrophy-dystroglycanopathy FKTN Myelodysplastic syndrome, somatic TET2 Myoclonus Dystonie SGCE Myopathy due to myoadenylate deaminase deficiency AMPD1 Myotonia Congenita [meduniwien.ac.at]

• High Arched Palate

  Spastic paraplegia was further complicated by short stature, high arched palate and dysgenesis of the corpus callosum especially in the dorsal parts ( Figures 2a and b ). Figure 2 Cranial MRI/CT scans of DDHD2 patients. [nature.com]

• Hyperreflexia

  All the affecteds suffered intellectual disability and/or developmental delay, spastic paraplegia, hyperreflexia and foot contractures. Spasticity in upper limbs and dysphasia were variably noticed. No fecal or urinary incontinence was observed. [cags.org.ae]

  The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. [neurohic.com]

  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]

  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]

  Diagnosis HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia [rarediseases.org]

• Babinski Sign

  The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. [neurohic.com]

  In pure forms, clinical features consist of isolated pyramidal signs, such as brisk reflexes, Babinski sign, spasticity and motor deficit, which can be associated with sphincter disturbances and deep sensory loss. [academic.oup.com]

• Global Developmental Delay

  Most common symptoms of SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Strabismus More info about SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 SOURCES [mendelian.co]

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]

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]

Standard Therapies Treatment: management of symptoms Despite encouraging progress in many research laboratories (see reference 7 for example), treatment for HSP is presently limited to reducing symptoms of muscle weakness, spasticity, and urinary urgency [rarediseases.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]

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]

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]

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]

[…] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis [ng.neurology.org]

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]

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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

[…] with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Synonym(s): - SPG54 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

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. [moldiag.com]

Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet 2003; 63(2):83-101. 45. Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. [siicsalud.com]

J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review). [link.springer.com]

Identification of more than 39 HSP 1 genes highlights intracellular membrane trafficking, mitochondrial metabolism and myelin formation as key functions involved in HSP pathogenesis. 2 Only recently lipid metabolism has emerged as another main theme in HSP pathophysiology [nature.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]

This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP. [academic.oup.com]

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]

Protein coding - E9PKE6 NM_001164234 NP_001157706 3' truncation in transcript evidence prevents annotation of the end of the CDS. [ensembl.org]

In case you want to purchase multiple domains to prevent your competitors from getting the same name, you can use the tool to make sure of it. [domainnamegenerator.org]

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]

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]