Article

Muscle diseases may have various clinical manifestations including muscle
weakness, atrophy or hypertrophy and joint contractures. A spectrum of
non-muscular manifestations (cardiac, respiratory, cutaneous, central and
peripheral nervous system) may be associated. Few of these features are specific.
Limb joint contractures or spine rigidity, when prevailing over muscle weakness
in ambulant patients, are of high diagnostic value for diagnosis orientation.
Within this context, among several disorders, four groups of diseases should
systematically come to mind including the collagen VI-related myopathies, the
Emery-Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. More
rarely other genetic or acquired myopathies may present with marked contractures.
Diagnostic work-up should include a comprehensive assessment including family
history, neurological, cardiologic and respiratory evaluations. Paraclinical
investigations should minimally include muscle imaging and electromyography.
Muscle and skin biopsies as well as protein and molecular analyses usually help
to reach a precise diagnosis. We will first describe the main muscle and
neuromuscular junction diseases where contractures are typically a prominent
symptom of high diagnostic value for diagnosis orientation. In the following
chapters, we will present clues for the diagnostic strategy and the main measures
to be taken when, at the end of the diagnostic work-up, no definite muscular
disease has been identified.
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Langue : ANGLAIS