Spinal muscular atrophy (SMA): miscellaneous variants
Evidence-based neurology checklist on spinal muscular atrophy (sma): miscellaneous variants: Fazio-Londe disease This is limited to lower cranial nerves It starts in the 2nd decade Death occurs within 5 years It is considered the same as Brown-Vialetto-Van-Laere (BVVL) syndrome Nathalie syndrome:…
Fazio-Londe disease
- This is limited to lower cranial nerves
- It starts in the 2nd decade
- Death occurs within 5 years
- It is considered the same as Brown-Vialetto-Van-Laere (BVVL) syndrome
Nathalie syndrome: features
References
- Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 2007; 22:946-951.
- Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012; 7:83.
- Cremers CW, Ter Haar BG, Van Rens TJ. The Nathalie syndrome. A new hereditary syndrome. Clin Genet 1975; 8:330-340.
- Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 2008; 3:9.
