Congenital myopathies: not only a paediatric topic

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Congenital myopathies are a group of rare, inherited muscle disorders typically diagnosed in infancy or childhood.
• These conditions are characterized by specific histopathological findings in muscle tissue.
• While primarily pediatric, certain genetic mutations can lead to adult-onset presentations.

Purpose of the Study:

• To review the adult manifestations of major congenital myopathies: central core disease, multiminicore disease, centronuclear myopathy, and nemaline myopathy.
• To highlight common genetic underpinnings, characteristic clinical and pathological features, and diagnostic considerations in adult patients.
• To discuss the expanding spectrum of congenital myopathies into adulthood and its clinical implications.

Main Methods:

• Literature review of adult presentations of congenital myopathies.
• Analysis of genetic backgrounds, clinicopathological features, and differential diagnoses.
• Emphasis on recent findings regarding genotypes and phenotypes extending into adulthood.

Main Results:

• Specific genetic mutations (e.g., RYR1, DNM2, BIN1, KBTBD13) can cause congenital myopathies presenting in adulthood.
• Dominant RYR1 mutations are linked to malignant hyperthermia susceptibility and exertional rhabdomyolysis, appearing throughout life.
• Increasing numbers of early-onset cases are transitioning to adult neuromuscular care due to improved management and therapies.

Conclusions:

• The spectrum of congenital myopathies extends into adulthood, necessitating awareness among clinicians.
• Understanding adult presentations, genetic causes, and differential diagnoses is crucial for accurate patient management.
• Recent genetic discoveries broaden the understanding of these conditions and their clinical impact in adult populations.