Muscular Dystrophy
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1
what are the two most common types of muscular dystrophy
Duchenne and Becker
2
- present at birth, typically not noticed until 3-4 of age
- only affects males
- degenerative: gets worse overtime
- absence or deficiency of dystrophin - muscle cells fragile
- often in a wheelchair by age 12-15
- life expectancy: late to early 20s
- only affects males
- degenerative: gets worse overtime
- absence or deficiency of dystrophin - muscle cells fragile
- often in a wheelchair by age 12-15
- life expectancy: late to early 20s
duchenne muscular dystrophy
3
what are the early symptoms of duchenne muscular dystrophy
- delayed motor development
- proximal weakness
- increased fatigue
- enlarged calf muscles
- increased falls
- inability to run/jump
- "valley sign"
- proximal weakness
- increased fatigue
- enlarged calf muscles
- increased falls
- inability to run/jump
- "valley sign"
4
what is a valley sign
dip in the chest
5
- progressice muscle weakness
- primarily males
- shorter than dystrophin protein levels, cells partially function
- onset 5-60, progresses slower than DMD
- life expectancy varies greatly
- primarily males
- shorter than dystrophin protein levels, cells partially function
- onset 5-60, progresses slower than DMD
- life expectancy varies greatly
Becker Muscular Dystrophy
6
what are the early symptoms of Becker Muscular Dystrophy
- delayed walking
- difficulty with stairs
- toe walking
- muscle cramps
- fatigue
- difficulty with stairs
- toe walking
- muscle cramps
- fatigue
7
- accounts for half of subtypes
- males and females
- normal dystrophin levels, lack of structural dystrophin associated glycoproteins
- not always symmetrical
- pelvic and shoulder muscles affected first
- life expectancy varies
- males and females
- normal dystrophin levels, lack of structural dystrophin associated glycoproteins
- not always symmetrical
- pelvic and shoulder muscles affected first
- life expectancy varies
limb-girdle muscular dystrophy
8
what are the early symptoms of limb-girdle muscular dystrophy
-waddling gait
- enlarged calves
- lordosis with scoliosis
- enlarged calves
- lordosis with scoliosis
9
- teen or adult onset
- affects both males and females
- life expectancy typically into late adulthood (30% doe from cardiac complications)
- affects both males and females
- life expectancy typically into late adulthood (30% doe from cardiac complications)
myotonic muscular dystrophy
10
what are the early symptoms of myotonic muscular dystrophy
- delayed relaxation after muscle contraction
- may have associated cardiac and neurological symptoms
- may have associated cardiac and neurological symptoms
11
- third most common type
- affects males and females
- onset 7-20 (earlier onset = more severe symptoms)
- slow progression
- life expectancy normal
- affects males and females
- onset 7-20 (earlier onset = more severe symptoms)
- slow progression
- life expectancy normal
facioscapulohumeral muscular dystrophy
12
what are the early symptoms of facioscapulohumeral muscular dystrophy
- facial weakness progressing down the body
- not usually symmetrical
- winged scapula
- not usually symmetrical
- winged scapula
13
- less 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 extectancy
- 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 extectancy
Emery-Dreifuss Muscular Dystrophy
14
what are the early symptoms of Emery Dreifuss Muscular Dystrophy
- formation of muscle contractures at heel cords, elbows, posterior neck
- toe walking
- increased trips/falls
- toe walking
- increased trips/falls
15
- mother to son
x-linked recesive
16
what types of MD are x-linked recessive
Duchennes, Becker, Emery-Dreifuss
17
- both parents carry and pass on one affected gene
autosomal recessive
18
what types of MD are autosomal recessive
Emery Dreifuss, limb girdle, oculopharyngeal, distal, congenital
19
- one affected and one normal gene
autosomal dominant
20
what types of MD are autosomal dominant
Emery Dreifuss, limb girdle, facioscapulohumral, myotonic, oculopharyngeal, distal, congenital
21
child rolls onto hands and knees, uses hands to support weight, walks hands up legs to assume upright position
gower sign
22
how is MD diagnosed
- primary physician identifies symptoms
- runs tests (genetic, CK levels, electromyopgraphy, muscle biopsy)
- runs tests (genetic, CK levels, electromyopgraphy, muscle biopsy)
23
how are symptoms managed for MD
- respiratory maintenance
- skin integrity
- pain
- nutrition and hydration
- OT/PT
- drugs
- corrective/preventative surgeries
- gene replacementene modification
- skin integrity
- pain
- nutrition and hydration
- OT/PT
- drugs
- corrective/preventative surgeries
- gene replacementene modification
24
is their cognitive impacts with MD
mostly never
25
what are some of the safety considerations for MD
- fall risk
- fatigue
- muscle weakness
- respiratory
- cardiovascular
- fatigue
- muscle weakness
- respiratory
- cardiovascular
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