Hemoxylin & eosin stained muscle biopsy showing variable muscle fibre sizes in an 8 year old male with EDMD A positive genetic test in a person with the signs and symptoms of EDMD provides definitive diagnosis. Genetic testing can involve single-gene testing or genomic testing. Auxiliary testing can include the following: Classification<unk>  can be sub-classified by pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. * Autosomal dominant: heart problems with weakness (and wasting) of skeletal muscles and Achilles tendon contractures. * X-linked: result of the EMD gene mutation, characterized by cardiac involvement. * Autosomal recessive: characterized by cardiac issues, such as arrhythmia. Differential Contractures manifest early in the disease course. Other diseases that have early or congenital contractures are diseases involving collagen mutations, including Ullrich congenital muscular dystrophy and Bethlem myopathy. SEPN1-related myopathy and arthrogryposis multiplex congenita also cause congenital contractures. Weakness initially affects the humeral and peroneal muscles, progressing to involve the scapular and pelvic muscles. Facioscapulohumeral muscular dystrophy has a similar muscle involvement pattern.
Emery–Dreifuss muscular dystrophy
Limb–girdle muscular dystrophy
Fukuyama congenital muscular dystrophy
Ullrich congenital muscular dystrophy
X-linked spinal muscular atrophy type 2
Jokela type spinal muscular atrophy
Thiel–Behnke dystrophy
Danon disease