Presentation
SLSMD should be considered even in cases with atypical presentation. To successfully identify carriers of SLSMD, a repeated combined analysis of buccal swab and urinary epithelial cells is needed. [go.gale.com]
Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure. Eur J Hum Genet. 2015b;23:1254–8. [ncbi.nlm.nih.gov]
Entire Body System
- Pain
This may lead to symptoms such as fever, headache, fatigue, skin rash, or painful joints and muscles. www.wordscope.com (v4.0.br.77) syndrome lymphoprolifératif lié à l x Date index:2021-04-02 > [wordscope.com]
Treatment
SNOMEDCT-BE (disorder) / 722290008 SNOMEDCT-BE (disorder) / 722290008 leucémie aigüe myéloïde et syndromes myélodysplasiques liés aux inhibiteurs de la topoisomérase II A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment [wordscope.com]
Spinal Muscular Atrophy in the Treatment Era. Neurol Clin 2020;38:505-18. [wjgnet.com]
Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009; 15:319-28, http://dx.doi.org/10.1097/NRL.0b013e3181b287c8 [ Links ] 15. Yang E, Prabhu SP. [scielo.org.mx]
Fahn S. generalized dystonia: Concept and treatment. Clinical Neuropharmacol 1986; 9 (supl 2): 37-48. 4. Marsden C D. The focal dystonias. Clinical Neuropharmacol 1986; 9 (supl 2) : 49-60. 5. Calne DB, Lang AE. Secondary dystonia. [svneurologia.org]
The 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q10 deficiency. Neuromuscul Disord. 2012;22:76–86. [ncbi.nlm.nih.gov]
Epidemiology
Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 1988; 3: 188-194. 14. Giron L T, Koller W, Tanner C M. Epidemiology of dystonic disorders. En: Tsui J K, Calne D (eds). Hanbook of Dystonia. Nueva York. [svneurologia.org]
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. Neurogenetics. 2010;11:1–12. [ncbi.nlm.nih.gov]
Pathophysiology
Classification and pathophysiology of dystonia. Mov. Disord 1997;12:A3. 10. Marsden CD, Harrison MJ, Bundey S. Natural history of idiopathic torsion dystonia. Adv Neurol 1976;14:177-187. 11. Greene P, Kang U J, Fahn S. [svneurologia.org]
Prevention
Return on Investment from the Prevention of Orphan Diseases in Kuwait. Ann Public Health 2022. [DOI: 10.55085/aph.2022.637] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis] 22 Finder JD. [wjgnet.com]