Muscular dystrophy is diagnosed through a physical examination, a family history, blood tests, genetic tests and muscle biopsy. A preliminary diagnosis can be performed on the basis of past symptoms and characteristic traits. The age of onset and the clinical presentation may vary according to the type of dystrophy.
PHYSICAL EXAMINATION IN MUSCULAR DYSTROPHY
Muscular dystrophy is characterized by progressive muscle wasting and muscle weakness. All of the muscles may be affected or only specific group of muscles may be affected, such as those around the pelvis, shoulder, or face depending on the type of the muscular dystrophy. Different muscular dystrophies have different age of onset depending on which the patient is diagnosed. Some of the common presenting symptoms include abnormal gait also referred to as waddling gait with frequent falls, difficulty in rising from the floor and climbing stairs, getting up off the ground by putting hands on the knees, and then on the thighs (Gowers’ sign), enlargement of calf muscles (pseudohypertrophy) and curved back (scoliosis).
Since, muscular dystrophy is a genetic disorder, a family history can be used as a diagnostic tool, but in many cases, as it can also be caused by spontaneous mutations, an absence of family history cannot rule out the possibilities of occurrence of the disorder. The diagnosis cannot be confirmed only on the basis of clinical presentation and family history. Blood tests, muscle biopsy and genetic tests are essential to confirm the diagnosis.
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