Diagnosis and treatment of muscular diseases

Abstract

The diagnosis and treatment of muscular diseases are reviewed. For the diagnosis of muscular diseases, it is necessary to combine clinical findings with various investigations, including laboratory tests, electrophysiological assessment, muscle biopsy and genetic analysis.

Idiopathic inflammatory myopathies (IIMs) have been classified into three distinct subsets, polymyositis, dermatomyositis and sporadic inclusion myositis. For the treatment of IIMs, corticosteroids, immunosuppressants and intravenous immunoglobulin are used.

Duchenne muscular dystrophy (DMD) is caused by the mutation of dystrophin gene. Recently, promising genetic strategies, such as stop–codon readthrough and exon–skipping with antisense oligonucleotide, have been developed as potential therapies for DMD. There is a pressing need for a useful outcome measures to assess disease progression and the efficacy of treatment. Current clinical outcome measures include functional tests and muscle imaging, such as CT, MRI and ultrasonography.