-genetic disorder that is an X-linked recessive trait
-increased deformity and disability

-Alterations of a protein called dystrophin that helps keep muscle cells intact

-Characterized by progressive muscle weakness starting with the proximal muscles then progresses to the distal muscles, usually notice around age 3

-S/S include difficulty jumping, walking, running, walking, enlargement of the calf muscles, waddling gait, and lumbar lordosis. Later on, the heart and respiratory muscles are affected as well

-weak lower muscles, usually use upper extremities

-assist them with ROM exercises in all extremities that keep joinnts flexible and low-impact aerobic activities such as swimming or walkinng
-if theyre unable to exercise, help them use their braces and supports such as walkers to maintain mobility
-assist pt with exercises and when performing ADL's and promote dignity by allowing pt to perform their ADL's while maintaining safety
-assess the level of pt's functional ability and mobility
-teach deep breathing exercises and relaxation techniques
-administer prescribed medications
-elevate the HOB and assume semi-fowlers position to help improve expansion of the lungs and to breathe more effectively

-As physical limitations increase, housing may need to be adapted in order to accommodate a wheelchair. Transportation will also be affected and a "car seat" may be used for the child with a weak neck and back

most children reach appropriate developmental milestones early in life, with only subtle delays. Muscle weakness begins around 3 - 7 years old. Difficulties in delay of motor development particularly walking, difficulties running, riding bicycles, climbing stairs are all often first signs. Boys typically have waddling gait as a result of weakness in glueteus medius and maximus and lordosis as a result of weakened pelvic muscles. Profound muscle atrophy is expected in later stages. Ambulation often impossible by 12 years of age. Increase in complications due to mobilization such as osteoporosis, fractures, constipation, skin breakdown, etc.Ultimately, the disease process involves the diaphragm and auxiliary muscles of respiration and cardiomegaly. Mild to moderate mental impairment is common.

Labs:

• Creatine Phosphokinase (CPK) is the most specific blood test that shows muscular dystrophy if the results are high / elevated.
• Transaminase, Lactate dehydrogenase and aldolase levels all may be elevated in muscular dystrophy but are not the only determining factor.
• Pulmonary Function tests (PFT's) and Arterial Blood Gas Exchange Sampling (ABG's) and Hematologic function will allow assessment of pulmonary function.
• Multiplex polymerase chain reaction (PCR) test may be useful to detect the deletion of the dystrophin gene.
  
  

Diagnostic Tests:

• Ultrasonography is a noninvasive technique that is used for observing the deterioration of muscles.
• Electromyograph (EMG) is when you insert a needle into the muscles to observe electrical activity.
• Muscle biopsy will allow sampling of different muscles under a microscope to observe and differentiate muscles dystrophy from other problems.

-nutritional needs of the child will decrease if wheelchair bound

-children with DMD tend to become more socially isolated as the disease progresses.

Fractures and skin breakdown common once ambulation because impossible

-children with DMD may need psychiatric or psychological counseling to help deal with depression, anger, and quality of life

Ensure the patient has proper shoes and ambulatory help such as a walker, gait belt, wheelchair etc.

Mechanical cough In-exsufflator (MCI) - noninvasive positive pressure (daily management of respiratory function)

PALLIATIVE CARE AND PRESERVATION OF FUNCTION

Signs and symptoms usually appear around the age of 2-3 and most children end up in a wheelchair around ages of 12-13