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what is 'spinal muscular atrophies types 2 and 3 - inherited disease causing muscle weakness '?
Definition for spinal muscular atrophies types 2 and 3
Spinal Muscular Atrophy Type 2 (also known as "spinal muscular atropy type II") is an autosomal recessive disease and is a form of spinal muscular atrophy (SMA).
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Spinal Muscular Atrophy Type 2 (also known as "spinal muscular atropy type II") is an autosomal recessive disease and is a form of spinal muscular atrophy (SMA).
Kugelberg-Welander disease (also known as "juvenile spinal muscular atrophy, "spinal muscular atrophy type 3, or "spinal muscular atrophy type III") is an autosomal recessive muscular disease. It is a form of spinal muscular atrophy, or SMA. It appears between 2 and 17 years of age, and include abnormal manner of walking; difficulty running, climbing steps or rising from a chair and slight tremor of the fingers.
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do i have 'spinal muscular atrophies types 2 and 3'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'spinal muscular atrophies types 2 and 3'
1 - 5 of
16
diagnostic tests
Amniocentesis
spinal muscular atrophies types 2 and 3 and Amniocentesis
Molecular Genetic Studies
spinal muscular atrophies types 2 and 3 and Molecular Genetic Studies
Arterial Blood Gas
spinal muscular atrophies types 2 and 3 and Arterial Blood Gas
Cerebrospinal Fluid analysis
spinal muscular atrophies types 2 and 3 and Cerebrospinal Fluid analysis
ECHOcardiogram
spinal muscular atrophies types 2 and 3 and ECHOcardiogram
EKG
Electrocardiogram
spinal muscular atrophies types 2 and 3 and EKG
Electromyogram (EMG)
spinal muscular atrophies types 2 and 3 and Electromyogram (EMG)
Electron Microscopy
spinal muscular atrophies types 2 and 3 and Electron Microscopy
Muscle biopsy
spinal muscular atrophies types 2 and 3 and Muscle biopsy
Nerve conduction studies (NCS)
spinal muscular atrophies types 2 and 3 and Nerve conduction studies (NCS)
Pulmonary Function Tests
spinal muscular atrophies types 2 and 3 and Pulmonary Function Tests
Pulse oximetry
Oximetry
spinal muscular atrophies types 2 and 3 and Pulse oximetry
Serum Creatine Kinase (CK)
spinal muscular atrophies types 2 and 3 and Serum Creatine Kinase (CK)
Cardiac monitoring
spinal muscular atrophies types 2 and 3 and Cardiac monitoring
Urethral catheter
spinal muscular atrophies types 2 and 3 and Urethral catheter
motor evoked response
spinal muscular atrophies types 2 and 3 and motor evoked response
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therapeutic procedures for 'spinal muscular atrophies types 2 and 3'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for spinal muscular atrophies types 2 and 3:
therapeutic procedure search results for 'spinal muscular atrophies types 2 and 3'
1 - 5 of
11
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
spinal muscular atrophies types 2 and 3 and Physical and Occupational Therapy
Bracing
spinal muscular atrophies types 2 and 3 and Bracing
Orthopedic surgical care
spinal muscular atrophies types 2 and 3 and Orthopedic surgical care
splint
spinal muscular atrophies types 2 and 3 and splint
spinal orthoses
spinal muscular atrophies types 2 and 3 and spinal orthoses
Chest physical therapy
spinal muscular atrophies types 2 and 3 and Chest physical therapy
Foley catheter
spinal muscular atrophies types 2 and 3 and Foley catheter
Transcranial magnetic stimulation
spinal muscular atrophies types 2 and 3 and Transcranial magnetic stimulation
Urethral catheter
spinal muscular atrophies types 2 and 3 and Urethral catheter
airway clearance
spinal muscular atrophies types 2 and 3 and airway clearance
canes and walkers
spinal muscular atrophies types 2 and 3 and canes and walkers
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medications search results for 'spinal muscular atrophies types 2 and 3'
rankings are computer generated. please consult your health care provider.
web search results for 'spinal muscular atrophies types 2 and 3'?
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1 - 50
- spinal muscular atrophies types 2 and 3
Spinal Muscular Atrophy
Important It is possible that the main title of the report Spinal Muscular Atrophy is not the name you expected. Please check the synonyms listing to find the ...
http://www.webmd.com/brain/spinal-muscular-atrophy-11217
www.webmd.com
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summary
Spinal muscular atrophy
A group of inherited diseases that cause progressive degeneration and , eventually leading to death. ... Types of Spinal Muscular Atrophy ...
http://adam.about.com/encyclopedia/000996prv.htm
adam.about.com
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MedlinePlus Medical Encyclopedia: Spinal muscular atrophy
... history of spinal muscular atrophy is a risk factor for all types of the disorder. ... The lifespan in SMA type 1 is seldom longer than 2 - 3 years. ...
http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm
www.nlm.nih.gov
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Respiratory failure in infants due to spinal muscular atrophy with ...
2006 Nov;32(11):1691-3. ... PATIENTS: We present two new cases of SMARD1 and report two new mutations in the ... Publication Types: Case Reports. Review. Mesh ...
http://www.ncbi.nlm.nih.gov/pubmed/16964485
www.ncbi.nlm.nih.gov
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Spinal muscular atrophy - Wikipedia, the free encyclopedia
( Source: Spinal Muscular Atrophy Genetic Counseling Access and Genetic Knowledge: ... 2 Diagnosis. 3 Cause. 4 Types. 4.1 Caused by mutation of the SMN gene ...
http://en.wikipedia.org/wiki/Spinal_muscular_atrophy
en.wikipedia.org
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Spinal muscular atrophy
... history of spinal muscular atrophy is a risk factor for all types of the disorder. ... The lifespan in SMA type 1 is seldom longer than 2 - 3 years. ...
http://adam.about.com/encyclopedia/infectiousdiseases/Spinal...
adam.about.com
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Spinal Muscular Atrophy -- GeneReviews -- NCBI Bookshelf
... et al 1996, Bingham et al 1997], other infants with various types of AMC do not. ... history of proximal chronic childhood spinal muscular atrophy (forms 2 and 3) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sma
www.ncbi.nlm.nih.gov
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Spinal and Bulbar Muscular Atrophy -- GeneReviews -- NCBI Bookshelf
... such as spinocerebellar ataxia type 3 (SCA3 or Machado-Joseph disease) ... kd is found in most cell types and likely reflects translation initiation at ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=kennedy
www.ncbi.nlm.nih.gov
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Spinal Muscular Atrophy
muscular atrophy (forms 2 and 3). Acta Cardiomiologica. 1992;4:19?33. ... recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Werdnig Hoffman Disease - Yahoo! Health
The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve ... SMA 3 patients (Kugelberg-Welander disease) will show symptoms after age 1, and ...
http://health.yahoo.com/nervous-overview/werdnig-hoffman-dis...
health.yahoo.com
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Introduction: Peripheral Nervous System and Motor Unit Disorders: Merck ...
Spinal muscular atrophy types I?IV. Acquired, acute ... (eg, spinal muscular atrophies) technically involve ... The distal 2?3 of a limb is affected most. ...
http://www.merck.com/mmpe/print/sec16/ch223/ch223a.html
www.merck.com
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Characterization of spinal motor neuron loss in a mouse model of Spinal ...
Spinal Muscular Atrophy (SMA) is a neurodegenerative disease most commonly ... ChAT+ motor neurons (3 spinal cords from SMA-?7 and 3 spinal cords from wild type mice) ...
http://www.ninds.nih.gov/jobs_and_training/summer/2008_stude...
www.ninds.nih.gov
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Spinal Muscular Atrophy, X-Linked Infantile -- GeneReviews -- NCBI ...
SMA Types by Inheritance Pattern. Classic Autosomal Recessive Spinal Muscular Atrophy ... infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sma-xli
www.ncbi.nlm.nih.gov
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KUGELBERG-WELANDER DISEASE - Pedbase.org
the Spinal Muscular Atrophies (SMA) are a group of inherited disorders in which ... 3. Muscle Biopsy. widespread atrophy involving all fibre types with groups ...
http://pedbase.org/k/kugelberg-welander-disease/
pedbase.org
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Orphanet: Simple search
Molecular diagnosis of proximal spinal muscular atrophy types 1, 2 and 3 (SMN gene) ... of Spinal Muscular Atrophy (types 1, 2 and 3) International Centre ...
http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simp...
www.orpha.net
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Introduction: Peripheral Nervous System and Motor Unit Disorders: Merck ...
... Disorders· Spinal Muscular Atrophies· Thoracic ... Spinal muscular atrophy types I?IV. Acquired, acute ... The distal 2?3 of a limb is affected most. ...
http://www.merck.com/mmpe/sec16/ch223/ch223a.html
www.merck.com
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X-linked infantile spinal muscular atrophy: clinical definition and ...
... that mapped to Xp11.3-q11.2. Here we report further ... near marker DXS 8080 and SNP ARHGEF9 which is near DXS7132 (Xp11.3-Xq11.1). Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/17224690
www.ncbi.nlm.nih.gov
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Spinal stenosis - Wikipedia, the free encyclopedia
2.4 Case 2: Athlete with stingers. 3 Thoracic spine. 3.1 Thoracic ... and bladder dysfunction, spasticity, motor weakness, hyperreflexia and muscular atrophy. ...
http://en.wikipedia.org/wiki/Spinal_stenosis
en.wikipedia.org
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Bones, muscles, and connective tissues - Genetics Home Reference
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy ... muscular dystrophy, Duchenne and Becker types see Duchenne and Becker ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...
ghr.nlm.nih.gov
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YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene ...
... 32(3):447 ... Two overlapping YACs were identified that contained a 150-kb ... clarifying a possible relationship between wr and LMGMD2B. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/8838809
www.ncbi.nlm.nih.gov
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WERDNIG-HOFFMANN DISEASE - Pedbase.org
the Spinal Muscular Atrophies (SMA) are a group of inherited disorders in which ... 3. Muscle Biopsy. atrophy of whole bundles of fibres (involving all fibre types) ...
http://pedbase.org/w/werdnig-hoffmann-disease/
pedbase.org
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Muscular Dystrophy: Hope Through Research: National Institute of ...
... 10 times, at a frequency of 2-3 shocks per second, to study muscle ... addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie ...
http://www.ninds.nih.gov/disorders/md/detail_md.htm
www.ninds.nih.gov
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Information on charcot marie tooth disease and brain disorders at ...
... motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a ... 2. 3. 4. 5. 6. 7. Next " Charcot-Marie-Tooth-Disease Index. Glossary ...
http://www.medicinenet.com/charcot-marie-tooth-disease/article.htm
www.medicinenet.com
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Identification of a candidate modifying gene for spinal muscular ...
Spinal muscular atrophy (SMA) is a common recessive disorder characterized by ... all map to chromosome 5q13 (refs 2,3), and nearly all patients display deletions ...
http://www.ncbi.nlm.nih.gov/pubmed/9731538
www.ncbi.nlm.nih.gov
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Spinal Muscular Atrophies: Peripheral Nerve Disorders: Merck Manual ...
There are four main types of spinal muscular atrophy. Symptoms ... Most children are confined to a wheelchair by age 2 to 3 years. ...
http://www.merck.com/mmhe/sec06/ch095/ch095j.html
www.merck.com
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Charcot-Marie-Tooth disease - Genetics Home Reference
Types 1, 2, 4, and intermediate forms are further categorized by subtypes ... Review: Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V ...
http://ghr.nlm.nih.gov/condition=charcotmarietoothdisease
ghr.nlm.nih.gov
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OMIM Update List for March, 2004
600175 SPINAL MUSCULAR ATROPHY, CONGENITAL NONPROGRESSIVE, OF LOWER LIMBS. 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2004
www.ncbi.nlm.nih.gov
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Androgen receptor - Wikipedia, the free encyclopedia
Progressive proximal spinal and bulbar muscular atrophy of late onset. ... Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) · AP-1 (c-Fos, FOSB, ...
http://en.wikipedia.org/wiki/Androgen_receptor
en.wikipedia.org
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Spinal Cord Injury: Emerging Concepts: National Institute of ...
The key types of immune cells in spinal cord injury appear to be macrophages and ... Two major signaling systems control the fate of embryonic brain and spinal ...
http://www.ninds.nih.gov/news_and_events/proceedings/sci_report.htm
www.ninds.nih.gov
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How does the mode of inheritance of a genetic condition influence ...
... risk; (2) concern about risk to future family-members; (3) feelings of ... Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were ...
http://www.ncbi.nlm.nih.gov/pubmed/16617244
www.ncbi.nlm.nih.gov
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Missense mutations in exon 6 of the survival motor neuron gene in ...
Spinal muscular atrophy (SMA) is a frequent autosomal recessive ... highly homologous copies (telSMN and cenSMN) within the SMA region (5q11.2-q13.3) ...
http://www.ncbi.nlm.nih.gov/pubmed/9158159
www.ncbi.nlm.nih.gov
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Kugelberg Welander Syndrome - Yahoo! Health
Spinal muscular atrophy type 3. Disorder Subdivisions. None. General Discussion ... fall frequently and have trouble walking up and down stairs at 2-3 years of age. ...
http://health.yahoo.com/children-resources/kugelberg-welande...
health.yahoo.com
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List of ICD-9 codes 320-359: diseases of the nervous system - Wikipedia ...
(334.2) Primary cerebellar degeneration (334.3) Other cerebellar ataxia ... Spinal muscular atrophy: Kennedy disease · spinal muscular atrophies of ...
http://en.wikipedia.org/wiki/List_of_ICD-9_codes_320-359:_Di...
en.wikipedia.org
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Hereditary Neuropathies: Peripheral Nervous System and Motor Unit ...
... · Plexus Disorders· Spinal Muscular Atrophies· Thoracic Outlet ... Types I and II (Charcot-Marie-Tooth disease, peroneal muscular atrophy) are the ...
http://www.merck.com/mmpe/sec16/ch223/ch223d.html
www.merck.com
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Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
2008 Feb;23(2):199-204. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) ... Publication Types: Research Support, Non-U.S. Gov't. Mesh Terms: ...
http://www.ncbi.nlm.nih.gov/pubmed/18263757
www.ncbi.nlm.nih.gov
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GM2A - Wikipedia, the free encyclopedia
... in normal human brain and brains of three types of GM2 gangliosidosis. ... (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus. ...
http://en.wikipedia.org/wiki/GM2A
en.wikipedia.org
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Traumatic Brain Injury: Traumatic Brain Injury (TBI): Merck Manual ...
Preventing agitation, excessive muscular activity (eg, from delirium), and pain ... A hypertonic saline solution (usually 2 to 3%) is being studied as another ...
http://www.merck.com/mmpe/sec21/ch310/ch310a.html
www.merck.com
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Pro?itajte sa?etak na PubMed
The effect of hydroxyurea in spinal muscular atrophy cells and patients. ... 1172007111220071231200812902008739020081290ppublishS0022-510X(07)00736-810. 1016 ...
http://www.ncbi.nlm.nih.gov/pubmed/18166199?ordinalpos=22&it...
www.ncbi.nlm.nih.gov
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Rare missense and synonymous variants in UBE1 are associated with ...
X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder ... analysis in genes located between markers DXS8080 and DXS7132 (Xp11.3-Xq11.1) ...
http://www.ncbi.nlm.nih.gov/pubmed/18179898
www.ncbi.nlm.nih.gov
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Erectile Dysfunction (ED) / Impotence information by the doctors of ...
Nerve or spinal cord damage: Damage to the spinal cord and nerves in the pelvis ... 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Next " Impotence (ED) Index. Glossary ...
http://www.medicinenet.com/impotence_ed/page2.htm
www.medicinenet.com
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Muscle - Wikipedia
Hyperlinked overview of the contractile form of tissue with information on types, diseases, control, and online resources.
http://en.wikipedia.org/wiki/Muscle
en.wikipedia.org
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Clinical variability in distal spinal muscular atrophy type 1 (DSMA1 ...
... present (1) a second juvenile case and (2) the first study of DSMA1 on protein ... the clinical course and the severity of the disease. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/18802676?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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A provisional transcript map of the spinal muscular atrophy (SMA ...
1995;3(2):87-95. A provisional transcript map of the spinal muscular atrophy (SMA) critical region. ... Publication Types: Research Support, Non-U.S. Gov't ...
http://www.ncbi.nlm.nih.gov/pubmed/7552146
www.ncbi.nlm.nih.gov
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AceView: gene:VAPB, a comprehensive annotation of human, mouse and worm ...
The remaining 3 mRNA variants (1 spliced, 2 unspliced; 2 partial) appear not to ... Finkel type; spinal muscular atrophy, proximal, adult, autosomal dominant) and ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?exdb...
www.ncbi.nlm.nih.gov
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Spinal Muscular Atrophy - Healthy Kids and Pediatrics - Information on ...
... usually becomes apparent between 3 and 15 months of age. ... Top 2. Spinal Muscular Atrophy Related Articles. Amyotrophic Lateral Sclerosis. Birth Defects ...
http://www.medicinenet.com/script/main/art.asp?articlekey=23884
www.medicinenet.com
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Arachnoiditis - Wikipedia, the free encyclopedia
2 Prognosis. 3 Treatment. 4 Current research. 5 External links [edit] Symptoms ... Spinal muscular atrophy: Kennedy disease · spinal muscular atrophies of ...
http://en.wikipedia.org/wiki/Arachnoiditis
en.wikipedia.org
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DcpS as a therapeutic target for spinal muscular atrophy.
2008 Nov 21;3(11):711-22. DcpS as a therapeutic target for spinal muscular atrophy. ... Publication Types: Research Support, N.I.H., Extramural. Research ...
http://www.ncbi.nlm.nih.gov/pubmed/18839960?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Encephalopathy - Wikipedia, the free encyclopedia
2 Types. 3 Causes. 4 Diagnosis. 5 Therapy. 6 Prognosis. 7 References. 8 See also ... Spinal muscular atrophy: Kennedy disease · spinal muscular atrophies of ...
http://en.wikipedia.org/wiki/Encephalopathy
en.wikipedia.org
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A new mutation in the HEXA gene associated with a spinal muscular ...
... 45(3 Pt 1) ... They presented with spinal muscular atrophy and dysarthria, and ... Publication Types: Research Support, Non-U.S. Gov't. Research Support, U.S. ...
http://www.ncbi.nlm.nih.gov/pubmed/7898712
www.ncbi.nlm.nih.gov
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Genome-wide expression analysis of a spinal muscular atrophy model ...
2008 Jan 2;3(1):e1404. Erratum in: PLoS ONE. 2008;3(4) ... studies as potential drug targets for SMA and other neuromuscular disorders. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/18167563?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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quick facts
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genetic or congenital
muscles
neurology
frequency
uncommon (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
difficulty walking
hearing loss
limited leg movements
muscle weakness in leg(s)
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diabetic neuropathy
multiple sclerosis
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