Congenital myopathies in adults: A diagnosis not to overlook

• Type: Article in International Scientific Journal
• Date: 2022

Authors

Pinto, MJ (Author) FMUP; Passos, BA (Author) Other; Grangeia, A (Author) FMUP; Guimaraes, J (Author) Other; Braz, L (Author) FMUP

Journal

Title: Acta Neurologica Scandinavica

Vol. 146

Pages: 152-159

ISSN: 0001-6314

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 1 Citation

Scopus - 2 Citations

Other information

Authenticus ID: P-00W-JPV

DOI: 10.1111/ane.13632

Abstract (EN): Background Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onset CM have been increasingly recognized, substantial diagnostic delays are still reported. Objectives To describe a cohort of adult CM patients, including clinical, genetic, and histopathological features, and further characterize the subgroup of adult-diagnosed patients. Materials and Methods We performed a retrospective observational cohort study to characterize the CM patients evaluated in our adult Neuromuscular outpatient clinic, including the subgroup of adult-diagnosed patients. Results We identified 19 CM patients with compatible molecular and/or histological diagnoses, of which 14 were diagnosed in adulthood. Eleven adult-diagnosed patients had symptoms since childhood and 9 had a family history of myopathy. The median age of symptoms' onset was 4 years old and the median age at diagnosis was 37 years old. The most common causative gene was RYR1, followed by TTN and MYH7. Three patients had non-specific features on muscle biopsy, all diagnosed during adulthood. Conclusions In our cohort, the majority of CM were diagnosed in adulthood, despite most having pediatric-onset symptoms and positive family history. The diagnostic delay may be associated with mild presentation, slow course, atypical muscle histology, and lack of awareness of adult-onset CM. Studies with larger populations are needed.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8