Week 14 – Muscular Dystrophy

Question 1

DMD

Answer 1

Duchenne Muscular Dystrophy

Question 2

Duschenne Muscular Dystrophy (basic description)

Answer 2

• X-linked Recessive inherited disorder
• Most common type of MD
• proximal weakness of legs and arms
• Affects lower extremities (LE) prior to the upper extremities (UE)

Question 3

True or False: DMD is only seen in boys

Answer 3

True

Question 4

MD

Answer 4

Muscular Dystrophy ~ a neuromuscular disorder characterized by
progressive muscle weakness resulting from a defect in
muscle protein leading to death of muscle cells

Question 5

How many types of Md are there?

Answer 5

9 (we focus on 6 most common)

Question 6

What is the most common type of MD?

Answer 6

DMD

Question 7

Cause of DMD

Answer 7

absence or deficiency in dystrophin protein

Question 8

Results of DMD

Answer 8

PHYSICAL:

• proximal weakness of legs and arms
• having a waddling gait
• enlarged calf muscles
• “valley sign” - an indent in between armpit and deltoid muscle area
• PROGRESSES from proximal to distal

OTHER:

• Children are usually using a wheelchair (W/C) by age 12
• 1/3 have cognitive impairment
• Life expectancy early 20’s

Question 9

BMD

Answer 9

Becker Muscular Dystrophy

Question 10

BMD (symptoms)

Answer 10

• similar to DMD
• only affects boys; x-linked recessive
• appears between 6-18 y/o
• PROGRESSIVE muscular weakness

Question 11

True or False: muscle weakness progresses slower in BMD than DMD?

Answer 11

True

Question 12

Progression of BMD

Answer 12

• occurs BILATERALLY
• progresses proximal to distal
• starting at PELVIC GIRDLE & thigh muscles
• goes to TRUNK & UE

Question 13

Difference of BMD from DMD

Answer 13

• w/c dependent in their 30’s

* survival rate is into early adulthood (25-30’s)

Question 14

LGMD

Answer 14

Limb Girdle Muscular Dystrophy

Question 15

True or false: LGMD accounts for 20% of the 30 subtypes of MD?

Answer 15

False: accounts for 50%!!! of all 30 subtypes of MD

Question 16

True or false: Most LGMD are AUTOSOMAL RECESSIVE

both parents carry the affected gene and pass it to their children

Answer 16

True

Question 17

True or False: (for LGMD) 50% are autosomal dominant

where a child inherits a normal gene from one parent and an affected gene from the other

Answer 17

False: only 10%

Question 18

True or False: (for LGMD) more severe form with faster decline, meaning onset in childhood often death in 30’s. If there’s an adult onset, they may have a normal lifespan.

Answer 18

True

Question 19

(for LGMD) Dystrophin levels are normal but there is decreased ________

Answer 19

GLYCOPROTEINS

Question 20

LGMD affects ___ & ___ but not necessarily symmetrically (one side of body can be more involved than other)

Answer 20

shoulders & pelvis

Question 21

MMD

Answer 21

Myotonic Muscular Dystrophy

Question 22

Autosomal dominant

Answer 22

causes by a child inheriting a normal gene from 1 parent and an affected gene from the other

Question 23

Symptoms of MMD

Answer 23

• Autosomal Dominant
• Muscle weakness and wasting begins in the face, lower legs, forearms, hands and neck; can have cognitive impairment
• Affects GI system

Question 24

FSMD

Answer 24

Facioscapulohumeral Muscular Dystrophy

Question 25

Symptoms of FSMD

Answer 25

* Initially affects the facial, shoulder and upper arm muscles with progressive weakness throughout the body in time, usually not symmetrical * Facial muscle weakness causes difficulty with closing the eyes, asymmetrical smile, drooping of the corners of the mouth, inability to whistle or pucker and wasting/atrophy of facial muscles

Question 26

True or False: FMSD is the 10th most common MD

Answer 26

False: 3rd most common

Question 27

EDMD

Answer 27

Emery-Dreifuss Muscular Dystrophy

Question 28

EDMD symptoms

Answer 28

* muscle contractures before weakness * present in heal cords - toe walking; trips; falls * ELBOWS contract to 90 degrees

Question 29

(for EDMD) Contracture of ____ and ____ pulling the body | backwards with difficulty flexing forward

Answer 29

Spine & Posterior Neck

Question 30

X-Recessive Chromosome Diseases:

Answer 30

* DMD | * EDMD

Question 31

What is an X-recessive chromosome disease?

Answer 31

mother is a carrier (on her X -chromosome) and sons can get the disorder

Question 32

Autosomal recessive diseases:

Answer 32

* EDMD | * LGMD

Question 33

Autosomal Recessive Dominant (definition):

Answer 33

both parents must carry the disorder and pass on to children

Question 34

Autosomal dominant DISEASES:

Answer 34

* EDMD * LGMD * FSMD * MMD

Question 35

True or False: Duchenne MD & Becker MD are the most common | types of MD and affect only females

Answer 35

FALSE: only affects MALES!!

Question 36

How is diagnosis confirmed?

Answer 36

through blood testing

Question 37

EMG - define

Answer 37

Electromyography ~ measures muscle response or electrical activity in response to a nerve's stimulation of the muscle

Question 38

Muscle Biopsy - define

Answer 38

A muscle biopsy is a procedure used to diagnose diseases involving muscle tissue

Question 39

EMG - purpose

Answer 39

evaluate the electrical activity of skeletal muscle (for MD)

Question 40

Muscle Biopsy - purpose

Answer 40

used to distinguish the type of dystrophy

Question 41

True or false: (for MD) If one child is diagnosed, all siblings and parents need to be tested as well

Answer 41

TRUE

Question 42

Medical Complications with MD:

Answer 42

* Respiratory * Skin Integrity * Pain * Nutrition

Question 43

Therapy Interventions for MD

Answer 43

``` HEP (Home Exercise Program) ADL Equipment Needs & Home modifications Splinting *Adaption & Energy Conservation ```

Question 44

Purpose of corticosteroids in MD

Answer 44

to assist respiration and decrease muscle damage

Question 45

Purpose of Immunosuppressant drugs in MD

Answer 45

delay muscle degeneration

Question 46

Purpose of Anticonvulsants in MD

Answer 46

used to control muscle activity

Question 47

Antibiotics

Answer 47

for infection

Question 48

Purpose of OTC (over-the-counter) in MD

Answer 48

use for pain management and muscle cramping

Question 49

Contracture release - Define

Answer 49

relieve pressure on the nerves and free them from surrounding scar tissue

Question 50

Cardiac Stability Surgery would be used with which MD?

Answer 50

EDMD