Neurol. praxi. 2024;25(1):71-73 | DOI: 10.36290/neu.2023.080
Patient with myopathy… or not?
- Neurologická klinika Fakultní nemocnice Ostrava
- Lékařská fakulta Ostravské univerzity
The clinical picture of the disease is a essential factor for determining the correct diagnosis and thus the treatment procedure. It is not uncommon that etiopathogenetically different processes can lead to outwardly visible symptoms. The similarity of the phenotype of hereditary myopathies and adult forms of spinal muscular atrophy (SMA) is known - mainly SMA III. type, Kugelberg-Welander, sometimes directly referred to as pseudomyopathic. In the light of the new possibilities of therapeutically influencing the SMA gene mutation, we remind you of the urgency of revising the diagnoses of adult patients who give the impression of myopaths. Diametrically different are not only the genes affected by the mutation and the level of the motor pathway lesion, but above all the current treatment options.
Keywords: spinal muscular atrophy, myopathy, loss of muscle mass, neurogenic, myogenic.
Received: December 9, 2023; Revised: December 9, 2023; Accepted: December 18, 2023; Prepublished online: December 18, 2023; Published: March 6, 2024 Show citation
References
- Ambler Z. Klinická neurologie - část speciální II. Praha: Triton. 2010;786-7 s. ISBN 978-80-7387-389-9.
- Ambler Z. Poruchy periferních nervů. Praha: Triton. 2013; 93-104 s. ISBN 978-80-7387-705-7.
- Bednařík J. a kol. Nemoci kosterního svalstva. Praha: Triton. 2001; 76 s, 84 s, 93 s, 133-4 s. ISBN 80-7254-187-0.
- Butchbach M. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021:22(15):7896.
Go to original source... 
Go to PubMed... - Haberlová J, Slabá A, Hedvičáková et al. Spinální svalové atrofie - diagnostika, léčba, výzkum. Neurol. praxi. 2016;17(6):349-353. Go to original source...
- Kimura J. Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice, edition 3. Oxford University Press. 2001; 608 p. ISBN 13987-0-19-512977-9.
- Preston DC, Shapiro BE. Electromyography and Neuromuscular Disorders, clinical - electrophysiologic‑ultrasound correlations. Philadelphia: Elsevier. 2021; 677 p. ISBN 978-0-323-66180-5.
- Tai‑Heng Chen. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Teatment and Where Do We Stand? Int J Mol Sci. 2020;21(9):3297. Go to original source... Go to PubMed...