Neurology. Clinical practice · 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Lanvin Pierre-Louis, Li Dong, Conrad Solène, Magot Armelle, Micaelli Xavier, Péréon Yann, Vincent Marie, Isidor Bertrand, Sternberg Damien, McCormick Elizabeth M, Hakonarson Hakon, Mercier Sandra, Falk Marni J
Аннотация
OBJECTIVES: Heterozygous missense variants in MYBPC1 have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.
METHODS: We report 3 new patients from 2 independent families with congenital myopathy with tremor.
RESULTS: Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to MYBPC1-dominant variants in children with neonatal hypotonia.
DISCUSSION: Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.
METHODS: We report 3 new patients from 2 independent families with congenital myopathy with tremor.
RESULTS: Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to MYBPC1-dominant variants in children with neonatal hypotonia.
DISCUSSION: Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.