Vol 10, No 1 (2024)
Case report
Published online: 2024-02-15

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Multiminicore disease as an important cause of toe walking: case report and literature review

Bartosz Musielak1, Mikołaj Patrzykąt1, Monika Seget2, Magdalena Ratajczyk1, Marek Jóźwiak1
Rheumatology Forum 2024;10(1):48-54.

Abstract

Toe walking belongs to gait deformities, which are challenging in diagnosing the underlying disease. Among different neurological and developmental causes of toe walking, one must remember congenital myopathies, among which multiminicore disease (MmD) represents a significant percentage and may cause life-threatening situations in the process of surgical treatment. Based on the presented case and a literature review, the spectrum of this particular congenital myopathy, the importance of muscle biopsy in the diagnostic process of toe walkers, and the risk concerning anaesthesia in children suspected of congenital myopathies are presented.

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