Fig. 3

Clinical differential diagnosis of myopathies based on weakness pattern (modified from Emery 1998; Emery 2002a; Emery 2002b; and Wenninger et al. 2018). Weak muscle groups are represented in blue. a Patients with Limb Girdle Muscular Dystrophy (LGMD) present proximal upper limbs, proximal lower limbs, shoulder-girdle, and pelvic-girdle weakness. b Patients with Dystrophinopathy included in the spectrum from the most severe Duchenne Muscular Dystrophy to the milder Becker Muscular Dystrophy present proximal upper limbs, proximal lower limbs, and limb girdle weakness combined with prominent increased volume (not shown), and weakness of the calf muscles (pseudohypertrophy). c Patients with Proximal Myotonic Myopathy (PROMM or Myotonic Dystrophy type 2) present weakness that is more prominent in the pelvic girdle (hip flexors and hip extensors), and in the neck flexors, followed by proximal upper limbs, and limb girdles. d Patients with Myotonic Dystrophy type 1 (Steinert´s myotonic dystrophy) present distal muscular atrophy and weakness mainly involving wrist flexors, finger flexors, and foot extensors, combined with a characteristic myopathic facial phenotype with forehead balding, temporal wasting, and ptosis combined with nasal speech, and dysphagia. e Patients with Facioscapulohumeral Muscular Dystrophy (FSHD) present characteristic muscle weakness that involves the scapular girdle with limitation of arm abduction, and scapula alata (not shown), combined with leg weakness, and facial weakness with difficulties to close the eyes, to protrude the lips, and to puff out the cheeks. f Emery-Dreifuss muscular dystrophy starts with early joint contractures (not shown) of the elbows, Achilles tendons, and posterior cervical muscles that progresses to a humeroperoneal pattern of muscle weakness that involves the scapular girdle and leg muscles followed by cardiomyopathy with cardiac conduction defects (not shown). g Oculopharyngeal muscular dystrophy (OPMD) presents involvement of the extraocular muscles, upper facial muscles with ptosis, neck musculature, proximal upper limbs, and lower limbs muscles. h Distal muscular dystrophies (previously known as distal myopathies) present weakness of distal upper limbs, and distal lower limbs muscles