Chapter 24 Congenital muscular disorders

Publisher Summary This chapter focuses on congenital muscular dystrophies (CMDs) and congenital myopathies (CMs). Most of these disorders are defined at the gene and molecular levels, and this has deeply transformed both their clinical identification as well as their pathophysiology. The chapter focuses on the major types of CMDs, defined at the gene level :primary merosin deficient CMD (MDCIA), Fukuyama type of CMD (FCMD), muscle-eye-brain disease (MEB), CMD with m. hypertrophy and α dystroglycan deficiency (MDCIC), CMD with m. hypertrophy and secondary laminin α2 deficiency (MDCIB), CMD with distal hyperlaxity, and CMD with early rigid spine syndrome (RSMDI). Electromyography (EMG) is a useful tool in the evaluation of patients with suspected myopathies; however, the role and utility of EMG in patients with congenital myopathies are less important than with other muscle diseases.