Spinal muscular atrophy
"Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019. "Spinal muscular atrophy". ... "Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov. Retrieved 24 October 2020. "Spinal Muscular Atrophy (SMA) , ... "Spinal muscular atrophy". Genetics Home Reference. Retrieved 27 May 2019. "Spinal Muscular Atrophy - Conditions , Children's ... "Spinal Muscular Atrophy". uptodate.com. Retrieved 1 December 2017. Bach JR, Niranjan V, Weaver B (April 2000). "Spinal muscular ...
Congenital distal spinal muscular atrophy
June 2012). "Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss ... Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII ... February 2004). "Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI ... Spinal muscular atrophies Oates EC, Reddel S, Rodriguez ML, et al. ( ...
Jokela type spinal muscular atrophy
... (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare ... "Spinal muscular atrophy, jokela type (Concept Id: C3554398) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 5 May 2021. " ... Medicine portal Chromosome 22 Finnish heritage disease Spinal muscular atrophies "Uusi hitaasti etenevä motoneuronitauti ... Late-onset spinal motor neuronopathy- a new neuromuscular disease at www.doria.fi Penttilä, Sini; Jokela, Manu; Huovinen, Sanna ...
Spinal and bulbar muscular atrophy
Spinal muscular atrophies Arvin, Shelley (2013-04-01). "Analysis of inconsistencies in terminology of spinal and bulbar ... Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive ... Kennedy, W. R.; Alter, M.; Sung, J. H. (1968). "Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex- ... Atsuta, Naoki (2006). "Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients". Brain. ...
Distal spinal muscular atrophy type 2
... (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very ... Spinal muscular atrophies Distal hereditary motor neuropathies Christodoulou, K; Zamba, E; Tsingis, M; Mubaidin, A; Horani, K; ... v t e v t e (Articles with short description, Short description is different from Wikidata, Muscular disorders, Genetic ...
Distal spinal muscular atrophy type 1
... (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1 ... Distal hereditary motor neuropathies Spinal muscular atrophies Spinal muscular atrophy Messina, M. F.; Messina, S.; Gaeta, M.; ... There is no published practice standard for the care in DSMA1, even though the Spinal Muscular Atrophy Standard of Care ... DSMA1 was identified and classified as a sub-group of spinal muscular atrophies (SMA) in 1974. Currently, various ...
Spinal muscular atrophies
... spinal muscular atrophies can be divided into:[citation needed] Proximal spinal muscular atrophies, i.e., conditions that ... spinal muscular atrophies are traditionally divided into:[citation needed] Autosomal recessive proximal spinal muscular atrophy ... with an exception of X-linked spinal muscular atrophy type 1), only motor neurons, located at the anterior horn of spinal cord ... Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders ...
X-linked spinal muscular atrophy type 2
... in the spinal cord and brain stem A child with these symptoms are likely to have X-linked spinal muscular atrophy. In order to ... Spinal muscular atrophies Arthrogryposis Ramser, J.; Ahearn, M. E.; Lenski, C.; Yariz, K. O.; Hellebrand, H.; Von Rhein, M.; ... X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1 ... Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a ...
Spinal muscular atrophy with progressive myoclonic epilepsy
... (SMA-PME), sometimes called Jankovic-Rivera syndrome, is a very ... "Spinal muscular atrophy with progressive myoclonic epilepsy". Genetics Home Reference. Retrieved 2018-09-24. Zhou, J.; Tawk, M ... National Institutes of Health (December 2013). "Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic ... "Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1". The American Journal ...
Spinal muscular atrophy with lower extremity predominance
... 1 Spinal muscular atrophy with lower extremity predominance 2A Spinal ... Spinal muscular atrophy with lower extremity predominance, sometimes called lower extremity-predominant spinal muscular atrophy ... 2B Spinal muscular atrophies This disambiguation page lists articles associated with the title Spinal muscular atrophy with ...
Spinal muscular atrophy with lower extremity predominance 1
Spinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 2A Spinal muscular atrophy with lower ... Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants ... "Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32". Neurology. 75 (6): 539-546. doi:10.1212/ ... "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology. 78 (16): 1714-20. doi:10.1212/WNL. ...
Spinal muscular atrophy with lower extremity predominance 2A
Spinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower ... Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by ... Systemic atrophies primarily affecting the central nervous system, All stub articles, Genetic disorder stubs). ...
Spinal muscular atrophy with lower extremity predominance 2B
Spinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower ... Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by ... "In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis". Cold Spring Harbor Molecular Case ... Systemic atrophies primarily affecting the central nervous system, All stub articles, Genetic disorder stubs). ...
Scoliosis
... spinal muscular atrophy, poliomyelitis, cerebral palsy, spinal cord trauma, and myotonia. Scoliosis often presents itself, or ... Lunn, Mitchell R; Wang, Ching H (2008). "Spinal muscular atrophy". The Lancet. 371 (9630): 2120-2133. doi:10.1016/S0140-6736(08 ... spinal muscular atrophy, syringomyelia, and pectus carinatum. Another form of secondary scoliosis is degenerative scoliosis, ... Secondary scoliosis due to neuropathic and myopathic conditions can lead to a loss of muscular support for the spinal column so ...
Mir-92 microRNA precursor family
Melki J (October 1997). "Spinal muscular atrophy". Current Opinion in Neurology. 10 (5): 381-5. doi:10.1097/00019052-199710000- ... and loss of function to the SMN complex has been correlated with the neurodegenerative disease spinal muscular atrophy. Also ...
Signal recognition particle
RNA-Processing Dysfunction in Spinal Muscular Atrophy". In Sumner CJ, Paushkin S, KO CP (eds.). Spinal Muscular Atrophy. ... the presence of anti-SRP antibodies are associated with more prominent muscle weakness and atrophy. Signal recognition particle ...
SMN1
Liu Q, Fischer U, Wang F, Dreyfuss G (September 1997). "The spinal muscular atrophy disease gene product, SMN, and its ... Mutations in SMN1 are associated with spinal muscular atrophy. Mutations in SMN2 alone do not lead to disease, although ... "Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene". Annals of Neurology ... "Spinal muscular atrophy of childhood at the edge of the centuries". Functional Neurology. 16 (4 Suppl): 247-53. PMID 11996521. ...
List of polio survivors
Breakwell, Spike (11 March 2006). "Inside story: spinal muscular atrophy". The Times. London. Retrieved 1 June 2007. Fowler, ...
Pablo Echenique
He had Spinal muscular atrophy. Echenique was elected a member of the Congress of Deputies in the April 2019 Spanish general ... People with spinal muscular atrophy, Scientists with disabilities, Podemos (Spanish political party) MEPs, Politicians with ...
Gynecomastia
Grunseich, C; Fischbeck, KH (November 2015). "Spinal and Bulbar Muscular Atrophy". Neurologic Clinics. 33 (4): 847-54. doi: ... proportion of male gynecomastia cases may be seen with rare inherited disorders such as spinal and bulbar muscular atrophy and ...
Spike Breakwell
... spinal muscular atrophy". The Times. UK. Retrieved 8 October 2008. Bev Creagh (19 November 2021). "Meet Dunstable's wannabe ...
Nusinersen
Spinal muscular atrophy is caused by loss-of-function mutations in the SMN1 gene which codes for survival motor neuron (SMN) ... The drug is used to treat spinal muscular atrophy associated with a mutation in the SMN1 gene. It is administered directly to ... Nusinersen for treating spinal muscular atrophy. NICE Technology appraisal guidance [TA588] 2019 "Drugmaker urges HSE to ... In around 60% of infants affected by type 1 spinal muscular atrophy, it improves motor function. People treated with nusinersen ...
Risdiplam
In the United States, risdiplam is indicated to treat people two months of age and older with spinal muscular atrophy. In two ... Risdiplam, sold under the brand name Evrysdi, is a medication used to treat spinal muscular atrophy (SMA) and the first oral ... Ramdas S, Servais L (February 2020). Grech D, Mikhailidis D, Abdollahi M (eds.). "New treatments in spinal muscular atrophy: an ... "FDA Approves Genentech's Evrysdi (risdiplam) for Treatment of Spinal Muscular Atrophy (SMA) in Adults and Children 2 Months and ...
Small nuclear RNA
Spinal muscular atrophy - Mutations in the survival motor neuron-1 (SMN1) gene result in the degeneration of spinal motor ... Spinal muscular atrophy affects up to 1 in 6,000 people and is the second leading cause of neuromuscular disease, after ... Spinal muscular atrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 19th ed. ... Duchenne muscular dystrophy. Dyskeratosis congenita - Mutations in the assembled snRNPs are also found to be a cause of ...
Salbutamol
Van Meerbeke JP, Sumner CJ (October 2011). "Progress and promise: the current status of spinal muscular atrophy therapeutics". ... Lewelt A, Newcomb TM, Swoboda KJ (February 2012). "New therapeutic approaches to spinal muscular atrophy". Current Neurology ... It has also been tested in a trial aimed at treatment of spinal muscular atrophy; it is speculated to modulate the alternative ...
Pyruvate dehydrogenase deficiency
An AAV9 vector is currently used in an FDA-approved gene therapy of spinal muscular atrophy (SMA) in infants and children. The ... Philadelphia, The Children's Hospital of (2019-12-20). "Gene Therapy for Spinal Muscular Atrophy (SMA)". www.chop.edu. ... Conversely, females with little to no enzyme activity will have major structural brain abnormalities and atrophy. Males with ...
Alberto Kornblihtt
... which Kornblihtt's team used in studying potential therapies for Skeletal Muscular Atrophy. Spinal Muscular Atrophy (SMA) is a ... In 2015, the families of Spinal Muscular Atrophy patients encouraged Kornblihtt and Krainer to work together to improve the ... Chen, Inês (November 19, 2019). "An antisense oligonucleotide splicing modulator to treat spinal muscular atrophy". Nature ... Alternative splicing and spinal muscular atrophy; 4) Ultraviolet light irradiation and alternative splicing; and 5) Alternative ...
Grigorios Polychronidis
His specific disability is Spinal Muscular Atrophy. He won the gold medal during the 2012 Summer Paralympics in BC3 mixed pairs ...
HSPB8
Meadows JC, Marsden CD (1969). "A distal form of chronic spinal muscular atrophy". Neurology. 19 (1): 53-8. doi:10.1212/wnl. ... D'Alessandro R, Montagna P, Govoni E, Pazzaglia P (1982). "Benign familial spinal muscular atrophy with hypertrophy of the ... Groen RJ, Sie OG, van Weerden TW (1993). "Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic ... "A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy". Ann. Neurol. 20 (4): 538-40. doi: ...
Irene Miguel-Aliaga
Spinal muscular atrophy : of flies, worms and men. ox.ac.uk (DPhil thesis). University of Oxford. OCLC 59391590. EThOS uk.bl. ...