What Are Some Initial Evaluations for Suspected Congenital Muscle Diseases?

Discussion Usually congenital myopathies (CM, e.g. nemaline, core, centronuclear myopathies, etc.) and congenital muscular dystrophy (CMD, e.g. LAMA2-related, collage VI-related, alpha-dystroglycan-related muscular dystrophy, etc.) have been diagnosed based on physical examination and histopathology. Traditionally CMs are due to problems with the muscle contractile apparatus and structures that assist excitation-contraction coupling. CMD are due to problems with the extracellular matrix, muscle membrane and sarcolemmal membrane. Differentiating between CM and CMD have become more blurred as genetic testing and additional research and testing becomes available, and these entities have more overlap in these evaluations. Evaluation, diagnosis and management requires a multidisciplinary team to care for the infant and educate and support their family. Infants with both CM and CMD usually present with hypotonia and muscle weakness which can cause early feeding problems and possibly respiratory problems. Physical examination findings can be subtle and can change with time. Suspicion of a muscle disease is important for starting the evaluation process and including specialists especially neurologists. Causes of muscle weakness with and without hypotonia can be found here, and hypotonia in infants can be reviewed here. Learning Point As with many evaluations, non-muscle related problems need to be considered and ruled in or out. For example, hypothyroidism, hypocalcemia and hypomagne...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news