Muscular Dystrophy

Question 0

What is nd caused by

Answer 0

Incorrect or missing genetic info

Question 1

What is muscular dystrophy

Answer 1

Genetic disorder which gradually weakens the body’s muscles

Question 2

What does md prevent the body form doing

Answer 2

Making proteins to build and maintain healthy muscle

Question 3

What is the most common muscle disease of childhood

Answer 3

Muscular dystrophy

Question 4

When does md start

Answer 4

In infancy or doesn’t appear till adulthood

Question 5

Phew is duchennes or beckers md passed in

Answer 5

From mother to son on X chromosome
Can skip generations
Can arise form new mutation

Question 6

Where does myotonic dystrophy come from

Answer 6

Either parent carries the defective gene, there’s a 50% chance the disorder will new passed to child

Question 7

Where do other md types come from

Answer 7

Defective gene from parents

Passed on from generation to generation will males and females affected equally

Question 8

First symptoms of md

Answer 8

Stumble, waddle, toe walking, difficulty going up stairs, struggle to get from sitting or hard time pushing things

Question 9

What is common to develop in md

Answer 9

Large calf muscles- psedohypertrophy

Question 10

Types of md

Answer 10

Duchennes 
Becker
Myotonic
Limb girdle 
Fasciscapulohumeral

Question 11

What’s the most common and sever md

Answer 11

Duchennes

Question 12

How many people does duchennes affect

Answer 12

1 out of 3500 boys

Question 13

What is duchennes caused by

Answer 13

Deficiency in dystrophin

Question 14

What are the symptoms of duchennes and when do they appear

Answer 14

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.

Question 15

Prognosis for duchennes

Answer 15

Most die by 20-30 from infections like respiratory problems or cardiovascular complications.

Question 16

How many people does beckers md affect and who

Answer 16

1 in 30000 boys.

Less common and progresses slower than duchennes

Question 17

What is beckers caused by

Answer 17

Insufficient production of dystrophin

Question 18

Symptoms of beckers md

Answer 18

Develops during teen years

Follows muscle pattern similar to duchennes

Question 19

Prognosis of beckers

Answer 19

May lead normal life span
Can lead long active lives
Life expectancy depends on severity of any breathing and heart problems

Question 20

Myotonic md type 1

Answer 20

Congenital
Onset of juvenile or adult
Intellectual impairments
Mere sever muscle weakness

Question 21

Myotonic md type 2

Answer 21

Less severe symptoms

Only adult onset

Question 22

What is myotonic md aka

Answer 22

Steinerts disease

Question 23

What is steinerts common in

Answer 23

Adults

Question 24

Symptoms of myotonic

Answer 24

``` Muscle weakness Myotonia Frequent falls Cataracts Heart problems Learning disabilities Difficulty getting up from positions ```

Question 25

Treatment of myotonic md

Answer 25

Genetic counseling Afo for foot drop Cardiac and pulmonary monitoring

Question 26

Limb girls md affects who | When do you seen symptoms

Answer 26

Boys and girls | 8-15

Question 27

What ,uncles are affected first in limb girdle md

Answer 27

Hips and shoulders. Progresses to arms and legs above pelvis and back muscles

Question 28

Who gets facioscapulohumeral md | When do symptoms appear

Answer 28

Boys and girls | Teen years

Question 29

How fast does facioscapulohumeral md progress | And starts with what

Answer 29

Slowly | Face then shoulder and back then legs and pelvic muscles

Question 30

Caring for kids with md

Answer 30

``` Rom to prevent contractures Bracing Power wc Ventilator Adapting environment ```