The diagnosis of<unk>  is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of<unk> . Specific muscle groups are affected by different types of<unk> . Classification Disorder name OMIM Gene Inheritance pattern Age of onset Muscles affected Description Becker<unk>  DMD XR Childhood Distal limbs progressing to generalised weakness A less severe variant of Duchenne<unk> , affects predominantly boys. Congenital<unk>  Multiple Multiple AD, AR At birth Generalised weakness Symptoms include general muscle weakness and possible joint deformities. Disease progresses slowly, and lifespan is shortened. Congenital<unk>  includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be paired with effects on the brain and other organ systems. Several forms of the congenital<unk> es are caused by defects in proteins thought to have some relationship to the<unk> n-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital<unk>  show severe brain malformations, such as lissencephaly and hydrocephalus. Duchenne<unk>  DMD XR Childhood Distal limbs progressing to generalised weakness, involving respiratory muscles The most common childhood form of<unk> , affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients are unable to walk. Typical lifespans range from 15 to 45. Sporadic mutations in this gene occur frequently. Distal<unk>  DYSF AD, AR 20–60 years Distal muscles in hands, forearms and lower legs Progress is slow and not life-threatening. Miyoshi myopathy, one of the distal<unk> es, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of limb–girdle<unk> . Emery–Dreifuss<unk>  Multiple Multiple XR, AD, AR Childhood, early teenage years Distal limb muscles, limb-girdle, heart Symptoms include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limb–girdle muscles. Most patients also suffer from cardiac conduction defects and arrhythmias. Facioscapulohumeral<unk>  DUX4 AD Adolescence Face, shoulders, upper arms, progressing to other muscles Causes progressive weakness, initially in the muscles of the face, shoulders, and upper arms. Additional muscles are often affected. Affected individuals can become severely disabled, with 20% requiring a wheelchair by age 50. 30% of cases involve spontaneous mutations. Penetrance and severity seem to be lower in females compared to males. Limb–girdle<unk>  Multiple Multiple AD, AR Any Upper arms and legs The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life threatening. Myotonic<unk>  DMPKCNBP AD Adulthood Skeletal muscles, heart, other muscle groups Presents with myotonia (delayed relaxation of muscles), as well as muscle wasting and weakness. Varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, and eyes. Oculopharyngeal<unk>  PABPN1 AD, rarely AR 40–50 years Eye muscles, face, throat, pelvis, shoulders
Muscular dystrophy
Charcot–Marie–Tooth disease
Brody myopathy
Chondrodystrophy
Cone dystrophy
Spinal muscular atrophy
Tropical ataxic neuropathy
Nemaline myopathy