Week 14 – Muscular Dystrophy Flashcards
DMD
Duchenne Muscular Dystrophy
Duschenne Muscular Dystrophy (basic description)
- 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)
True or False: DMD is only seen in boys
True
MD
Muscular Dystrophy ~ a neuromuscular disorder characterized by
progressive muscle weakness resulting from a defect in
muscle protein leading to death of muscle cells
How many types of Md are there?
9 (we focus on 6 most common)
What is the most common type of MD?
DMD
Cause of DMD
absence or deficiency in dystrophin protein
Results of DMD
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
BMD
Becker Muscular Dystrophy
BMD (symptoms)
- similar to DMD
- only affects boys; x-linked recessive
- appears between 6-18 y/o
- PROGRESSIVE muscular weakness
True or False: muscle weakness progresses slower in BMD than DMD?
True
Progression of BMD
- occurs BILATERALLY
- progresses proximal to distal
- starting at PELVIC GIRDLE & thigh muscles
- goes to TRUNK & UE
Difference of BMD from DMD
- w/c dependent in their 30’s
* survival rate is into early adulthood (25-30’s)
LGMD
Limb Girdle Muscular Dystrophy
True or false: LGMD accounts for 20% of the 30 subtypes of MD?
False: accounts for 50%!!! of all 30 subtypes of MD
True or false: Most LGMD are AUTOSOMAL RECESSIVE
both parents carry the affected gene and pass it to their children
True
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
False: only 10%
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.
True
(for LGMD) Dystrophin levels are normal but there is decreased ________
GLYCOPROTEINS
LGMD affects ___ & ___ but not necessarily symmetrically (one side of body can be more involved than other)
shoulders & pelvis
MMD
Myotonic Muscular Dystrophy
Autosomal dominant
causes by a child inheriting a normal gene from 1 parent and an affected gene from the other
Symptoms of MMD
- Autosomal Dominant
- Muscle weakness and wasting begins in the face, lower legs, forearms, hands and neck; can have cognitive impairment
- Affects GI system
FSMD
Facioscapulohumeral Muscular Dystrophy
Symptoms of FSMD
- 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
True or False: FMSD is the 10th most common MD
False: 3rd most common
EDMD
Emery-Dreifuss Muscular Dystrophy
EDMD symptoms
- muscle contractures before weakness
- present in heal cords - toe walking; trips; falls
- ELBOWS contract to 90 degrees
(for EDMD) Contracture of ____ and ____ pulling the body
backwards with difficulty flexing forward
Spine & Posterior Neck
X-Recessive Chromosome Diseases:
- DMD
* EDMD
What is an X-recessive chromosome disease?
mother is a carrier (on her X -chromosome) and sons can get the disorder
Autosomal recessive diseases:
- EDMD
* LGMD
Autosomal Recessive Dominant (definition):
both parents must carry the disorder and pass on to children
Autosomal dominant DISEASES:
- EDMD
- LGMD
- FSMD
- MMD
True or False: Duchenne MD & Becker MD are the most common
types of MD and affect only females
FALSE: only affects MALES!!
How is diagnosis confirmed?
through blood testing
EMG - define
Electromyography ~ measures muscle response or electrical activity in response to a nerve’s stimulation of the muscle
Muscle Biopsy - define
A muscle biopsy is a procedure used to diagnose diseases involving muscle tissue
EMG - purpose
evaluate the electrical activity of skeletal muscle (for MD)
Muscle Biopsy - purpose
used to distinguish the type of dystrophy
True or false: (for MD) If one child is diagnosed, all siblings and parents need to be tested as well
TRUE
Medical Complications with MD:
- Respiratory
- Skin Integrity
- Pain
- Nutrition
Therapy Interventions for MD
HEP (Home Exercise Program) ADL Equipment Needs & Home modifications Splinting *Adaption & Energy Conservation
Purpose of corticosteroids in MD
to assist respiration and decrease muscle damage
Purpose of Immunosuppressant drugs in MD
delay muscle degeneration
Purpose of Anticonvulsants in MD
used to control muscle activity
Antibiotics
for infection
Purpose of OTC (over-the-counter) in MD
use for pain management and muscle cramping
Contracture release - Define
relieve pressure on the nerves and free them from surrounding scar tissue
Cardiac Stability Surgery would be used with which MD?
EDMD
