Introduction to Congenital Myopathies
The congenital myopathies are a large group of genetic muscle disorders which present at birth or in infancy with hypotonia and muscle weakness. They are either stable, or progress slowly.
They are classified in four main subtypes based on histological findings from muscle biopsy.
- nemaline myopathies (NM)
- core myopathies (e.g., central core disease – CCD)
- congenital fibre type disproportion (CTFD)
- centronuclear myopathies (CNM)
For more information see this MDUK link which includes fact sheets
At birth these babies are usually hypotonic and weak. Some congenital myopathies have a myopathic face and present with long and narrow faces with an open mouth. They may also present with signs of bulbar weakness such as difficulty sucking and swallowing and have a weak cry. Contractures are usually milder than those seen in congenital muscular dystrophy. Children may present later with a delay in the development of motor milestones or even later with difficulty walking long distances, running and climbing stairs. The clinical course of congenital myopathy is usually stable or only slowly progressive. Involvement of the respiratory muscles is common and may require respiratory support.
Standards of Care for Congenital Myopathy
The International Standard of Care Committee for Congenital Myopathies, which includes 59 members from 10 medical disciplines, was established to identify current care issues, review literature for evidence-based practice, and achieve consensus for diagnostic and clinical care recommendations in 5 areas:
- Genetics/ diagnosis
- Gastroenterology/ nutrition/ speech/ oral care
- Orthopaedics/ rehabilitation.