Duchenne muscular dystrophy

Symptoms

100

Symptoms usually appear in male children before this age

6

200

Progressive proximal muscle weakness of the legs and pelvis associated with a loss of ____ mass is observed first

muscle

300

_____ walking is a compensatory adaptation to knee extensor weakness

toe

400

Difficulty with _______ (running, hopping, jumping)

motor skills

500

Early signs may include ___________________(enlargement of calf and deltoid muscles),

pseudohypertrophy

Diagnosis

100

__________ testing can identify children who carry the active mutation at birth

labratory

200

________(CPK-MM) levels in the bloodstream are extremely high.

Creatine kinase

300

An _____________ (EMG) shows that weakness is caused by destruction of muscle tissue rather than by damage to nerves.

electromyography

400

A muscle _______ or genetic test (blood test) confirms the absence of dystrophin, although improvements in genetic testing often make this unnecessary.

biopsy

500

___________ tests can be done on the baby to determine if muscular dystrophy may occur

prenatal

Treatment

100

There is no current _____ for DMD

Cure

200

By age 10, ____ may be required to aid in walking

Braces

300

Physical _______ is helpful to maintain muscle strength, flexibility, and function.

Therapy

400

A __________ may be needed to assist with breathing by late teens

Ventilator

500

______________ such as prednisolone and deflazacort increase energy and strength and defer severity of some symptoms

Corticosteroids

Cost

100

___ is the first to have funded a cost of illness study for neuromuscular disorder in the U.S, assessing the total cost to families and society per year for Duchenne Muscular dystrophy, and other diseases.

MDA

200

Medical cost was estimated around $______ per year which includes inpatient and outpatient medical expenses, medications, equipment such as wheelchair, beds, special equipment to help with daily living, and also including both out of pocket and reimbursed costs.

$22,533

300

Nonmedical cost was estimated $______ per year which include for housing, vehicles, paid car at home, dietary supplements and travel expense

12,939

400

If the patient needs to go to the ER the cost can vary from $_____- $______ depending on what procedure and tests need to be done.

700-6,000

500

Children affected by muscular dystrophy, especially Duchenne’s, are candidates for children’s _______ _______ benefits.

Social Security

Random Facts

100

Muscular Dystrophy Duchenne gene is found on the “_” chromosome, so primarily ____ are affecting by this disorder.

X, Boys

200

Although many cases are _________ inherited, approximately 35% of all DMD cases are the results of a new random spontaneous genetic mutation that can occur during pregnancy regardless of family history.

Genetically

300

In ____ the gene that cause DMD was successfully identified and isolated by medical.

1986

400

Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during ________.

Pregnancy

500

Genetic researchers at Children’s National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of “_____-________” to curb the devastating effects of Duchenne muscular dystrophy in an animal larger than a mouse.

Exon-Skipping