[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].

Abstract

The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy. Difficulties in independent walking and standing emerged by 14 years of age, progressing to significant mobility challenges by 21 years of age. The patient was referred to our department at 33 years of age for the transition to adult care. The examination revealed predominant trunk muscle weakness, persistent scoliosis, restricted neck and trunk mobility, significant restrictive ventilatory impairment, and mild intellectual developmental delay. Reanalysis of the muscle biopsy pathology was conducted, and genetic testing identified a known homozygous mutation, c.1574T>G (p.M525R), in the SELENON (SEPN1) gene, leading to a diagnosis of SELENON-related myopathy. The pediatric-to-adult healthcare transition can provide a valuable opportunity for the reassessment of diagnoses and disabilities.