Spinal muscular atrophy and its differential diagnosis. A patient's case report and his journey to diagnosis
Spinln svalov atrofie (SMA) je ddin neuromuskulrn onemocnn charakterizovan degenerac motorickch neuron, co vede ke svalov slabosti a atrofii. Diferenciln diagnostika SMA me bt nron kvli stejnm nebo podobnm symptomm s jinmi neuromuskulrnmi chorobami a vst tak k nesprvn interpretaci pznak a opodnmu stanoven sprvn diagnzy. Prezentujeme kazuistiku pacienta se spinln svalovou atrofi, je ekal na stanoven sprvn diagnzy 43 let.
Authors
- Olesja Parmová (ORCID: https://orcid.org/0000-0001-6534-1357)
Publication Details
- Journal
- Neurologie pro praxi
- Published
- 2025-05-05
- DOI
- https://doi.org/10.36290/neu.2025.023
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00