muscluar dystrophy Flashcards
Abnormal genes (mutations) interfere with _______
with the production of proteins needed to form healthy muscle
the most common type of muscular dystrophy
Duchenne Muscular Dystrophy (DMD) (most severe as well)
other than DMD, what are the other types
Becker MD ( less common, slower progress, not as predictable as DMD)
Congenital MD (dx at birth or before 2, affects boys and girls, very variable progression)
Limb-Girdle MD (dx as young as 2 or as old as 40, affects males and females, affects upper arms, upper legs, shoulders and hips)
what genteic gene is the inherited by DMD
X-linked recessive
main symptom of DMD
-Main symptom: muscle weakness
-Weakness tends to be symmetrical
What body parts are affected in DMD and in what order
-proximal to distal
-Usually, lower muscles are affected before the upper muscles
-Legs and hips are first affected.
body functions affected by DMD
-All levels of function involving any muscle,voluntaryor involuntary,can be affected.
-Bowel and bladder are usually not affected
-Cardiac: can reduce the efficiency of the heart muscle (typically later on)
-Respiratory: progressive weakness can affect muscles associated with breathing (typically later on)
-Gastrointestinal: difficulty swallowing
-Cognitive: average intelligence, may have learning disability
what is something that can happen with the cardiovascular system when you have DMD
cardio myopathy
common signs of DMD (physical)
Calves: enlarged, painful, being replaced with fat and tissue, muscle atrophy
Gait: inability to go up stairs or jump, wobbly or abnormal gait, fatigue when walking long distances, walking on tiptoes, internal rotation of the hip
Spine: curvature increasing- hyperlordosis, may develop scoliosis
Gower’s sign: weakness in proximal muscles, slow lift to get up using arms and hands
PTA role in MD
-Gait training with Knee ankle foot orthosis (KAFO) because they provide critical support to the muscles that are weakened by the muscular dystrophy.
-Stretching to prevent contractures
OTA role in MD
-Support in implementing school adaptions
Extra time for transitions, Preferential seating
Go through halls at less congested times (before bell ring, or after) Student note taker, alternative ways of taking notes, Chair for circle time
-Wheelchair modifications
What may be particular with this condition and wheelchair needs?
environmental factors in MD
-Assistive devices (adaptive aids, communication aids, mobility devices)
-Assisted ventilation
is DND curable
no
survival rate for DMD
-Until relatively recently: not many dx in childhood survived beyond their teen years
-Survival into the early 30’s becoming more common than before: advances in cardiac and respiratory care.
