Muscular Dystrophy Flashcards
What is nd caused by
Incorrect or missing genetic info
What is muscular dystrophy
Genetic disorder which gradually weakens the body’s muscles
What does md prevent the body form doing
Making proteins to build and maintain healthy muscle
What is the most common muscle disease of childhood
Muscular dystrophy
When does md start
In infancy or doesn’t appear till adulthood
Phew is duchennes or beckers md passed in
From mother to son on X chromosome
Can skip generations
Can arise form new mutation
Where does myotonic dystrophy come from
Either parent carries the defective gene, there’s a 50% chance the disorder will new passed to child
Where do other md types come from
Defective gene from parents
Passed on from generation to generation will males and females affected equally
First symptoms of md
Stumble, waddle, toe walking, difficulty going up stairs, struggle to get from sitting or hard time pushing things
What is common to develop in md
Large calf muscles- psedohypertrophy
Types of md
Duchennes Becker Myotonic Limb girdle Fasciscapulohumeral
What’s the most common and sever md
Duchennes
How many people does duchennes affect
1 out of 3500 boys
What is duchennes caused by
Deficiency in dystrophin
What are the symptoms of duchennes and when do they appear
Around 5 Fatigue Muscle weakening beginning in pelvic girdle going to shoulder girdle and all muscles Respiratory affected Enlarged calves Id Gowers sign Loss on independent ambulatory by 9 Advanced stages:curvature of spine (scoliosis) and contractures of joints.
Prognosis for duchennes
Most die by 20-30 from infections like respiratory problems or cardiovascular complications.
How many people does beckers md affect and who
1 in 30000 boys.
Less common and progresses slower than duchennes
What is beckers caused by
Insufficient production of dystrophin
Symptoms of beckers md
Develops during teen years
Follows muscle pattern similar to duchennes
Prognosis of beckers
May lead normal life span
Can lead long active lives
Life expectancy depends on severity of any breathing and heart problems
Myotonic md type 1
Congenital
Onset of juvenile or adult
Intellectual impairments
Mere sever muscle weakness
Myotonic md type 2
Less severe symptoms
Only adult onset
What is myotonic md aka
Steinerts disease
What is steinerts common in
Adults
Symptoms of myotonic
Muscle weakness Myotonia Frequent falls Cataracts Heart problems Learning disabilities Difficulty getting up from positions
Treatment of myotonic md
Genetic counseling
Afo for foot drop
Cardiac and pulmonary monitoring
Limb girls md affects who
When do you seen symptoms
Boys and girls
8-15
What ,uncles are affected first in limb girdle md
Hips and shoulders. Progresses to arms and legs above pelvis and back muscles
Who gets facioscapulohumeral md
When do symptoms appear
Boys and girls
Teen years
How fast does facioscapulohumeral md progress
And starts with what
Slowly
Face then shoulder and back then legs and pelvic muscles
Caring for kids with md
Rom to prevent contractures Bracing Power wc Ventilator Adapting environment
