Midterm Muscular Distrophy

Question 1

Muscular dystrophy refers to a group of muscle diseases that have 3 common features, name them?

Answer 1

Inherited, progressive, and exhibit selective patterns of weakness

Question 2

What does DMD and BMD stand for? Main characteristic of both?

Answer 2

DMD- Duchenne muscular dystrophy
- fast form of MD

BMD- Becker’s muscular dystrophy
- slower form of MD

Question 3

DMD is an _ disorder characterized by _ _ muscle _ starting in the muscles of the _, _, and _. Is the most? Rapidly progressive in?

Answer 3

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

Question 4

DMD is inherited by_ as an_ gene through their_ or Occurs as a_ _. percentages associated with each?

Answer 4

Inherited by males as an X-link gene through their mothers (60–70%) or occurs as a spontaneous mutation (30–40%)

Question 5

In DMD _ muscles can become , due to the replacement of muscles cells by _ and _ tissue. Known as, occurs over _ % of the time.

Answer 5

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

Question 6

With DMD the age of onset of noticible symptoms occurs around _ to _ years of age. Progressive muscle weakness and atrophy starting in the _ _, _ _, and _.

Answer 6

Around 2 to 6 years old

Progressive muscle weakness and atrophy starting in the Upper arms, upper legs, and hips

Question 7

What is the characteristic sign of proximal muscle weakness called? Describe.

Answer 7

Gower’s manuever

-uses hands to push up on their legs when getting up from the floor.

Question 8

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?

Answer 8

Begin to fall and will develop a wide-based, waddling gait due to muscle weakness

Steroid treatment is common . . .

Question 9

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.

Answer 9

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

Question 10

Wheelchair considerations for DMD patients? (2)

Answer 10

Needs to have tilt & recline options

Should meet their needs for 5 years

Question 11

Deformities such as scoliosis, plantar flexion & knee contractures develop _ _ and are _ _ to _.

Answer 11

Develop over time and are nearly impossible to prevent

Question 12

_, _, and use of _ _ may slow contracture development.

Answer 12

Stretching, proving, and use of night splints

Question 13

Some MD patients live into their _ and _ _ by using _ to compensate for?

Answer 13

Live into their 3rd and 4th decades by using ventilators to compensated or failure of the respiratory muscles

Question 14

_ _ (_ diagnosis) can be used for _ and _ _ and for _ counseling.

Answer 14

Genetic analysis (molecular diagnosis) can be used for prenatal and postnatal diagnosis and for genetic counseling

Question 15

_ _ and _ _ enzyme elevation in the blood indicated muscle cell abnormality

Answer 15

Serum creatine and creatine kinase enzyme elevation

Question 16

_ can determine if the weakness is caused by destruction of muscle tissue or nerve damage, early on.

Answer 16

EMG

Question 17

Corticosteriod treatment can _ _ of time patients can _.

Answer 17

Can increase the amount of time patients can walk

Question 18

Rehabilitation, orthopedic, psychosocial, cardiac, pulmonary, GI, speech/ swallowing, nutrition and corticosteriod management are all?

Answer 18

Interventions used to help patients with DMD

Question 19

_ _ _ refers to group of motor neuron diseases that differ in ge of onset and severity but are all characterized by degeneration of LMN’s

Answer 19

Spinal muscular atrophy

Question 20

SMA is inherited by _ and _ as an _ _ disorder, meaning child must receive a _ _ _ in chromosome 5q from _ _.

Answer 20

Inherited by males and females as an autosomal recessive disorder, meaning child must receive defective X-linked gene from both parents.

Question 21

Weakness with SMA shows in the proximal muscles of the _, _ and _. Muscles that operate the _ and _ require less _ and _ to _.

Answer 21

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

Question 22

The _, _ and _ muscles are spared in SMA but muscles need to _ and _ can be severely affected.

Answer 22

The diaphragm, facial and ocular muscles are spared, but muscles needed to chew and swallow can be severely affected.

Question 23

4 types of SMA and corresponding age of onset

Answer 23

Type I: 0-6 months

Type II: less than 18 months

Type III: 1.5-18 years

Type IV: 30-40 years old

Question 24

Which type of SMA is associated with: Sits, but is never able to walk. Moderate disease course, and will use a power w/c.

Answer 24

Type II

Question 25

Which type of SMA is associated with: walking until age 20-30, moderate disease progression; will use a w/c after age 30.

Answer 25

Type III

Question 26

Which type of SMA is associated with: never sits without support, disease course is severe; must be pushed in a manual wheelchair

Answer 26

Type I

Question 27

Which type of SMA is associated with: Walks with slight difficulty, mild disease course, and walks throughout life.

Answer 27

Type IV

Question 28

Treatment for SMA is _ and directed at _ _ _ and managing _ _ on the joints

Answer 28

Is palliative, and directed at maximizing independent function and managing deforming forces on the joints

Question 29

_ _ are managed with program of stretching and bracing. _ is a major risk, and _ _ may be necessary.

Answer 29

Joint contractures are managed with stretching and bracing

Scoliosis is a major risk, and spinal fusion may be necessary

Question 30

_ elevation in the blood indicates muscle cell degeneration in SMA patients.

Answer 30

CPK (creatine- phosphokinase) elevation

Question 31

Blood cells are tested for the _ of SMA 1 exon 7 copies

Answer 31

Absence of SMA1 exon 7 copies

Question 32

Lack of _ _ in the final _ _ _ is a telling sign for SMA type?

Answer 32

Lack of fetal movement in the final stages of pregnancy for SMA type I (most severe type)