Neurol. praxi. 2021;22(3):242-247 | DOI: 10.36290/neu.2020.049
Congenital myopathy associated with RYR1 gene mutation (case report)
- Klinika detskej neurológie LF UK a NÚDCH, Bratislava
Congenital myopathies are a heterogenous group of genetic neuromuscular disorders characterized by variable phenotype and characteristic histopathological picture. The clinical features of patients are muscle weakness and hypotonia, which is often present at birth and in the early months of life (floppy baby syndrome). The clinical course of disease is static or slowly progressive. In the past, diagnose of congenital myopathy was based on muscle biopsy, which has been replaced by methods of genetic testing. In our case report we presented a case of 15 years-old boy with a manifestation of hypotonic syndrome in the neonatal period, followed by difficulty walking and loss of ambulation.
Keywords: congenital myopathies, neuromuscular disorders, diagnostics, therapy.
Received: May 18, 2020; Revised: May 26, 2020; Accepted: May 26, 2020; Prepublished online: May 26, 2020; Published: October 1, 2021 Show citation
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