Muscular diseases (myopathy) are the diseases depending on the disease of muscle fibers and weakness, muscle thinning, pain or cramp are observed. Myopathy may be genetic and also arise from external factors and occur subsequently. Diagnosis is established when the necessary tests are conducted after the examination of a specialist for the myopathy. These examinations are blood analysis including muscle enzymes (especially creatinine kinase) electromyography to show whether muscle and nerve functions properly or not and genetic examinations as much as possible and muscle biopsy.
Even if the disorder causing genetic myopathy is congenital, age of occurrence is variable. While some of them show themselves from the birth, others start at early age. Since familial myopathy is not treated yet, being informed about myopathy and inheritance in the family is very significant to prevent the birth of child with the disease, foresee the problems to be encountered by the sick person and take necessary actions if possible and prevent kin marriage.
Duchenne and Becker muscular dystrophy (dystrophinopathies): It is a disease occurring due to the deficiency of a protein called dystrophine necessary for the structure of muscle fibers.
Junction type muscular dystrophy: It is the group myopathy that the patients have difficulty in climbing stairs or hill due to weakness of muscle around shoulder and hip.
Myotonic dystrophy: Myotonic dystrophy is the most frequent genetic myopathy in the adult period. It shows transmission as an automosol dominant. In other words, the possibility of catching the disease of every child that mother or father has this disease is 50%.
Facioscapulohumoral muscular dystrophy (FSH): Especially facial muscles, shoulder muscles are affected in this disease. It shows transmission as automosol dominant.
Emery-Dreifuss muscular dystrophy: This disease starting at early childhood period shows itself with contracture (non-opening of joints fully due to muscle contraction), mild weakness of leg and arm muscles. Interaction of cardiac muscle is observed in all patients immediately. Due to arrhythmia, patients need to use pacemaker in the 30’s. Since arrhythmia may result in death, pacemaker will be life saving.
Congenital muscular dystrophy: It is the congenital myopathy. It results in affection of skeletal muscle and structural disorders in the brain, mental retardation and visual disorder. It has different types such as muscle-eye-brain syndrome, Walker-Warburg’s syndrome, Fukuyama type congenital muscular dystrophy. Treatment other than physical therapy is not possible.
Congenital myopathy: Congenital myopathy occurs due to structural disorder of muscle fibers. Even if they are seen in the babyhood period, it has forms showing itself in the advanced age. Differently from congenital muscular dystrophy, congenital myopathy progresses slowly. Physical therapy is necessary to increase performance of the patient and prevent deformity.
Metabolic myopathy: It is the myopathy arising from not using sugar (glycogen) and lipids (Fat) providing energy for muscles due to hereditary disorders.
Mitochondrial muscular diseases: Mitochondria is the structure meeting energy requirement of the cell. Diseases of these structures are significant for not only muscle but also a number of organ systems. However, muscles are the tissues affected most due to high energy need. Most of mitochondrial diseases are transmitted by the mother to the child. Both girl and boy may get ill. The most frequent symptoms are phytosis, restricted eye movement and weakness of arm and legs.