1what are the types of muscular dystrophy
Duchenne
Becker
Limb-Girdle
Myotonic
Facioscapulohumeral
Emery-Dreifuss
2Present at birth, typically not noticed until 3-4 years of age.
Only affects males
Degenerative
Absence or deficiency of dystrophin—muscle cells fragile
often wheelchair dependent by age 12-15
Life Expectancy: late teens to early 20s
duchenne muscular dystrophy
3what are the early symptoms of duchenne muscular dystrophy
Delayed motor development
Proximal weakness
Increase fatigue
Enlarged calf muscles
Increased falls
Inability to run/jump
"valley sign"
4Progressive muscle weakness
Primarily males
Shorter than normal dystrophin protein levels, cells partially function
Onset varies from 5-60+, progresses slower than DMD
Life expectancy: varies greatly. Middle to late adulthood (~25-30 years after onset)
Becker Muscular Dystrophy
5what are the early symptoms of Becker Muscular Dystrophy
Delayed walking
Difficulty with stairs
Toe walking
Muscle cramps
Fatigue
6Accounts for half of subtypes
Classified by age of onset, rate of progression, and inheritance
Males and females equally affected
Normal dystrophin levels, lack of structural dystophin-associated glycoproteins.
Not always symmetrical
Pelvis and shoulder muscles affected first
Life expectancy: varies with age of onset (early 30s into late adulthood)
limb girdle muscular dystrophy
7what are the early symptoms of limb girdle muscular dystrophy
Waddling gait
Enlarged calves
Lordosis with scoliosis
8Teen or adult onset
Affects both males and females
Life expectancy typically into late adulthood
30% die from cardiac complications
myotonic muscular dystrophy
9what are the early symptoms of myotonic muscular dystrophy
Delayed relaxation after muscle contraction
May have associated cardiac and neurological symptoms
10Third most common type
Affects males and females
Onset 7-20 years of age (earlier onset = more severe symptoms)
Slow progression
life expectancy: normal
facioscapulohumeral muscular dystrophy
11what are the early symptoms of facioscapulohumeral muscular dystrophy
Facial weakness progressing down the body
Not usually symmetrical
Winged scapula
12Less statistically common
Most often affects males
Presents by age 10
Generally symmetrical
Significant cardiac complications
Cardiac and pulmonary complications often cause of death, mid adulthood
Early intervention and medical management will improve life expectancy
emery dreifuss muscular dystrophy
13what are the early symptoms of emery dreifuss muscular dystrophy
Formation of muscle contractures at heel cords, elbows, posterior neck
Toe walking
Increased trips/falls
14what is the etiology of muscular dystrophy
- inherited genetic disorders
15what does x-linked recessive mean? and what types of muscular dystrophy are x-linked recessive
mother to son
Duchenne, Becker, Emery-Dreifuss
16what does autosomal recessive mean? and what types of muscular dystrophy are autosomal recessive m
Both parents carry and pass on one affected gene
Emery-Dreifuss, limb-girdle, oculopharyngeal, distal, congenital
17what does autosomal dominant mean? and what types of muscular dystrohy are autosomal dominant
One affected and one normal gene
Emery-Dreifuss, limb-girdle, facioscapulohumeral, myotonic, oculopharyngeal, distal, congenital
18what is a positive Gower sign
Gower maneuver is used to rise from the floor. A. First the child must roll onto his hands and knees. B. Then he must bear weight by using his hands to support some of his weight, while raising his posterior. The boy then uses his hands to “walk” up his legs to assume an upright position.
19what are other progressive neuromuscular disorders
spinal muscular atrophy (SMA)
myasthenia gravis (MG)
Pompe disease
Charcot-Marie-Tooth disease (CMT)
20what is the diagnosis of muscular dystrophy
- First identified by primary physician
- Muscle weakness, increased falls, muscle cramps, increased fatigue
- Specific testing:
- Genetic testing
- CK level testing
- Electromyography (EMG)
- Muscle biopsy
- No stand alone test
- Due to genetic nature, if one person in family tests positive all parents and children should be tested
21what are ways for people with muscular dystrophy to maintain independence as long as possible
Respiratory maintenance
Skin integrity
Pain
Nutrition and hydration
OT/PT
Drug (corticosteroids, immunosuppressants, anticonvulsants, antibiotics, Emflaza <clinical trials>)
Corrective/preventative surgeries
Gene replacementene modification
22do people with muscular dystrophy have cognitive impacts
most don't
23what are the precautions for muscular dystrophy
fall risk
fatigue
muscle weakness
respiratory
cardiovascular
24what are the contraindications for muscular dystrophy
contractures
25what are the considerations for someone with muscular dystrophy
mental health
26where might you work with patients with muscular dystrophy or other neuromuscular disorders?
any setting