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Incidence of DMD?
Most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births.
about 20,000 new cases each year.
equal prevalence across all races and cultures
Cause of DMD?
gene found on the X chromosome primarily affecting boys. passed from mother.
How many cases of DMD random spontaneous mutations?
What does the DMD gene mutation cause?
Absence of dydtrophin. 70% are deletion, 6% are duplication and 24$ are stop/point mutation
What happens in the absence of dystrophin?
muscles are unable to repair after use which results in progressive muscle and strength loss. Muscle tissue converts into a fatty scar tissue after use. Large muscles are affected first.
How id DMD diagnosed?
Parents usually report gross motor delays to pediatrician. Calves are enlarged/defined. Toe walking/tight heel cords accures. Not running or jumping. fatigued and muscle cramps.
At what age is DMD typically diagnosed?
spontaneous mutations are diagnosed around age 3 but can be diagnosed later.
What tests typically diagnose DMD?
- Blood tests confirm high levels of creatine kinase
- muscle biopsy
- genetic testing
- family history - diagnosed as fetus
What are the 5 stages of DMD?
- 1: presymptomatic
- 2: early ambulatory
- 3: late ambulatory
- 4: early non-ambulatory
- 5: late non-ambulatory
DMD's effects of cognition?
typically not impaired however, 30% of people with DMD have OCD, autism spectrum, and ADD/ADHD
Medical manifestations of DMD?
- Increased risk of respiratory infection, scoliosis, and joint contractures
- decreased cardiac function
- GI complication (feeding, constipation)
- psychosocial complications (slowly lose these functions)
Prognosis/outcomes of DMD?
Life expectancy is mid twenties to early thirties. More and more are going to college and working within their field. They do not live alone, need attendant care provider to help complete ADLs.
6 minute walk test?
monitor distance, number of breaks taken, used in trial studies.
10m walk test?
- <6 seconds (18+ months)
- 6-12 seconds (12-18 months)
- > 12 seconds (less than 12 months)
Timed Gower's test?
- <5 seconds (18+ months)
- <10 seconds (12-18 months)
- >10 seconds (less than 12 months)
Why is it critical to maintain ROM and posture with DMD patients?
- Reduced orthopedic issues (scoliosis, contractures)
- allows for efficient respiratory, GI, and cardiac function along with longer movement
- Pain management and quality of life
Treatment protocol for DMD?
- No strengthening or eccentric muscle contractions (NO STAIR TRAINNING) because patient will not improve strength or regain lost function.
- Low impact cardio such as swimming and bike riding.
- ROM and positioning very important.
- improve quality of life, maintenance is progress.
DMD HEP protocol?
- Daily stretching (minimum is 1hr/day)
- swimming (30-40 minutes 3-5 times per week) have to use flotation device, snorkel, mask, and fins.
DMD equipment recommendations?
orthotics (shoe inserts and night splints), bath chairs, slide boards, power wheelchair, hoyer lifts, reacher, probed/hospital bed, autmated faucets and soap dispensers, ex-N-flex
Home modifications for patients with DMD?
Modified vehicle for power wheelchair conversion, doors widened, showers/bathtubs, toilet and sink, entryways and ramps.