Hereditary Myopathy with Joint Contracture

Muscle disease can be divided into hereditary and acquired by pathogenesis. The clinical manifestations are unspecific, including muscle weakness, muscle hypertrophy, muscle atrophy, and joint contractures. Besides, it is likely that a spectrum of extramusclar symptoms, such as cardiac, respiratory, cutaneous, central and peripheral nervous system, may be involved. However, the specific manifestation of joint contractures or spine rigidity prevails over muscle weakness in ambulant patients and is of a high diagnostic value. To make a preliminary diagnosis, clinicians need to ask in detail about the family history and conduct a comprehensive neurological examination and a careful assessment of cardiac muscle and respiratory system. Auxiliary examinations such as electromyography, muscle MRI, biopsy of skeletal muscle or skin, and genetic test help to confirm the diagnosis. This article focuses on hereditary muscle diseases with contracture, including collagen Ⅵ-related myopathies, Emery-Dreifuss muscular dystrophies, the SEPN1 related myopathies, and FHL1 related myopathies.