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Diagnosis
ОглавлениеThe initial diagnosis is based on clinical findings (e.g. generalised muscle weakness)Table 1.3.2 Classification and characteristics of muscular dystrophy.TypeSex Age at onsetMuscles involvedAssociated complicationsLife expectancyDuchenne muscular dystrophyMales3–5 yearsAllCardiomyopathy Intellectual disabilityDie at the end of adolescenceBecker muscular dystrophyMales10–20 yearsAllCardiomyopathy (uncommon)NormalEmery–Dreifuss muscular dystrophyMales<10 yearsAllCardiomyopathy (severe)Die at 30–50 yearsLimb‐girdle muscular dystrophyBoth sexes15–20 yearsPelvic girdle and shouldersCardiomyopathyVariableFacioscapulohumeral muscular dystrophyBoth sexes15–20 yearsFace and shouldersCardiomyopathy (uncommon)NormalMyotonic muscular dystrophy – types 1 and 2Both sexes20–30 yearsAllCardiomyopathy Cutaneous dystrophy Ocular disorders Intellectual disabilityDie at 30–50 years (earlier for type 1)Congenital muscular dystrophyBoth sexesBirthAllRespiratory distress Intellectual disabilityVariableOculopharyngeal muscular dystrophyBoth sexes40–50 yearsUpper eyelids, pharynx, tongueVision problems Dysphagia CardiomyopathyNormalDistal muscular dystrophyBoth sexes40–60 yearsDistalRespiratory distress (in advanced phases)Normal
Blood tests: serum levels of creatine phosphokinase (CPK), aspartate transaminase (AST) and lactate dehydrogenase (LDH)
Electromyography
Muscle biopsy (histopathological and immunological analysis of the muscle) (Figure 1.3.5)
In some types of muscular dystrophy, genetic analysis may be of valueFigure 1.3.5 Diagnostic muscle biopsy showing random variation in fibre size, increase in fibrosis and degeneration of muscle fibres (Masson trichrome staining, ×20).