Midterm Muscular Distrophy Flashcards
Muscular dystrophy refers to a group of muscle diseases that have 3 common features, name them?
Inherited, progressive, and exhibit selective patterns of weakness
What does DMD and BMD stand for? Main characteristic of both?
DMD- Duchenne muscular dystrophy
- fast form of MD
BMD- Becker’s muscular dystrophy
- slower form of MD
DMD is an _ disorder characterized by _ _ muscle _ starting in the muscles of the _, _, and _. Is the most? Rapidly progressive in?
Inherited disorder characterized by rapidly progressive muscle weakness starting in the muscles of the hips, legs, and shoulders.
Most frequently encountered type of MD and is rapidly progressive over the 1st 2 decades of life
DMD is inherited by_ as an_ gene through their_ or Occurs as a_ _. percentages associated with each?
Inherited by males as an X-link gene through their mothers (60–70%) or occurs as a spontaneous mutation (30–40%)
In DMD _ muscles can become , due to the replacement of muscles cells by _ and _ tissue. Known as, occurs over _ % of the time.
Calf muscles become hypertrophied due to replacement of muscles cells with Fat or connective tissue
Known as pseudo hypertrophy and occurs like 80% of the time
With DMD the age of onset of noticible symptoms occurs around _ to _ years of age. Progressive muscle weakness and atrophy starting in the _ _, _ _, and _.
Around 2 to 6 years old
Progressive muscle weakness and atrophy starting in the Upper arms, upper legs, and hips
What is the characteristic sign of proximal muscle weakness called? Describe.
Gower’s manuever
-uses hands to push up on their legs when getting up from the floor.
Children with DMD will also begin to _ and will develop a -, _ _ due to the muscle weakness. Common treatment has been controversial but is gaining more acceptance due to better dosing?
Begin to fall and will develop a wide-based, waddling gait due to muscle weakness
Steroid treatment is common . . .
By age _ most patients with DMD will be using a power wheelchair in order to get _ _. _ and/ or _ problems often develop during the teen years.
By age 12 most use a power wheelchair in order to get around independently
Respiratory (100%) and/or heart (30%) problems develop in the teen years
Wheelchair considerations for DMD patients? (2)
Needs to have tilt & recline options
Should meet their needs for 5 years
Deformities such as scoliosis, plantar flexion & knee contractures develop _ _ and are _ _ to _.
Develop over time and are nearly impossible to prevent
_, _, and use of _ _ may slow contracture development.
Stretching, proving, and use of night splints
Some MD patients live into their _ and _ _ by using _ to compensate for?
Live into their 3rd and 4th decades by using ventilators to compensated or failure of the respiratory muscles
_ _ (_ diagnosis) can be used for _ and _ _ and for _ counseling.
Genetic analysis (molecular diagnosis) can be used for prenatal and postnatal diagnosis and for genetic counseling
_ _ and _ _ enzyme elevation in the blood indicated muscle cell abnormality
Serum creatine and creatine kinase enzyme elevation
_ can determine if the weakness is caused by destruction of muscle tissue or nerve damage, early on.
EMG
Corticosteriod treatment can _ _ of time patients can _.
Can increase the amount of time patients can walk
Rehabilitation, orthopedic, psychosocial, cardiac, pulmonary, GI, speech/ swallowing, nutrition and corticosteriod management are all?
Interventions used to help patients with DMD
_ _ _ refers to group of motor neuron diseases that differ in ge of onset and severity but are all characterized by degeneration of LMN’s
Spinal muscular atrophy
SMA is inherited by _ and _ as an _ _ disorder, meaning child must receive a _ _ _ in chromosome 5q from _ _.
Inherited by males and females as an autosomal recessive disorder, meaning child must receive defective X-linked gene from both parents.
Weakness with SMA shows in the proximal muscles of the _, _ and _. Muscles that operate the _ and _ require less _ and _ to _.
Shows in the proximal muscles of the shoulders, hips and trunk.
Muscles that operate the feet and hands require less strength and continue to work
The _, _ and _ muscles are spared in SMA but muscles need to _ and _ can be severely affected.
The diaphragm, facial and ocular muscles are spared, but muscles needed to chew and swallow can be severely affected.
4 types of SMA and corresponding age of onset
Type I: 0-6 months
Type II: less than 18 months
Type III: 1.5-18 years
Type IV: 30-40 years old
Which type of SMA is associated with: Sits, but is never able to walk. Moderate disease course, and will use a power w/c.
Type II
Which type of SMA is associated with: walking until age 20-30, moderate disease progression; will use a w/c after age 30.
Type III
Which type of SMA is associated with: never sits without support, disease course is severe; must be pushed in a manual wheelchair
Type I
Which type of SMA is associated with: Walks with slight difficulty, mild disease course, and walks throughout life.
Type IV
Treatment for SMA is _ and directed at _ _ _ and managing _ _ on the joints
Is palliative, and directed at maximizing independent function and managing deforming forces on the joints
_ _ are managed with program of stretching and bracing. _ is a major risk, and _ _ may be necessary.
Joint contractures are managed with stretching and bracing
Scoliosis is a major risk, and spinal fusion may be necessary
_ elevation in the blood indicates muscle cell degeneration in SMA patients.
CPK (creatine- phosphokinase) elevation
Blood cells are tested for the _ of SMA 1 exon 7 copies
Absence of SMA1 exon 7 copies
Lack of _ _ in the final _ _ _ is a telling sign for SMA type?
Lack of fetal movement in the final stages of pregnancy for SMA type I (most severe type)
