Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature

Abstract

Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres. The clinical features overlap with muscular dystrophies, myofibrillar myopathies, neurogenic conditions and congenital myasthenic syndromes. We describe a case of cap myopathy with myasthenic features due to a mutation in the TPM2 gene that responded to anticholinesterase therapy. We also review other published cases of congenital myopathies with neuromuscular transmission abnormalities. This report expands the spectrum of congenital myopathies with secondary neuromuscular transmission defects. The recognition of these cases is important since these conditions can benefit from treatment with drugs enhancing neuromuscular transmission.

Keywords: Acetylcholine receptor; Acetylcholinesterase inhibitors; BIN1; Centronuclear myopathies; Congenital myasthenic syndromes; Congenital myopathies; DNM2; Fibre type disproportion; MTM1; Neuromuscular junction; Neuromuscular transmission; Plectinopathy; RYR1; TPM2; TPM3; Tropomyosin.