Contents Outline
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- History/Background
- Naming
- Naming
- Previous* Research – research leading up to the discovery of the genetic component and the symptoms of Distal spinal muscular atrophy Type I
- Subtypes
- SMA with Respiratory Distress Type I
- SMA with Respiratory Distress Type I
- Causes
- Genetics
- Physiological
- Genetics
- Symptoms
- Diagnoses
- Treatments/Therapeutic Techniques
- Prenatal
- Postnatal
- Prenatal
- Experimental Research
- Genetics
- Epidemiology
- Epidemiology
- Prognosis
- Progression
- Patient Support
- Parental Counseling
- Genetic Counseling
- Parental Counseling
References
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Matthijs G, Devriendt K, Fryns JP. "The prenatal diagnosis of spinal muscular atrophy." Prenatal Diagnosis 18.6(1998):607-610. Web. 14 Feb. 2013.
Fuenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lutzkendorf S, Hubner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M. "Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease." Journal of Molecular Medicine 87.1 (2009):31-41. Springer Link. Web. 14 Feb. 2013.
Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damjano AM, Lombardo F, Crisafulli G, De Luca F. "Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and reivew of the literature." European Journal of Paediatric Neurology 16.1 (2012):90-94. Science Direct. Web. 14 Feb. 2013.