MD Flashcards

1
Q

What are muscular dystrophies?

A

Inherited, genetic, disorder causing progressive muscle weakness & atrophy

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2
Q

If a disorder is X-linked what does that mean?

A

Mutation in one of the mother’s X chromosomes; may not be passed to offspring, may be passed to daughter who is an asymptomatic carrier, may be passed to a son who will develop the disease

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3
Q

If a disorder is autosomal dominant what does that mean?

A

You only need to get the abnormal gene from one parent who has it

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4
Q

If a baby boy presents with weakness that starts in the trunk and spreads to the legs first and on labs you see elevated CK, what does he have?

A

Duchenne Muscular Dystrophy

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5
Q

What is the pathogenesis of Duchenne Muscular Dystrophy?

A

X-linked defective gene causing dystrophin deficiency thus leading to muscle breakdown

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6
Q

Is there any treatment for Duchenne MD?

A

corticosteroids, but prognosis is wheelchair by 12 and survival into late teens/20’s

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7
Q

What if the boy is older presenting with central weakness that then spreads to the legs, with only low dystrophin levels?

A

Then it is known as Becker Muscular Dystrophy

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8
Q

For Becker disease or Duchenne what are some of the complications and reasons why lifespan is shorter?

A

cardiomyopathy, respiratory infections, fractures, cognitive impairment

Becker = live to 40’s       
Duchenne = Live to teens/20’s
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9
Q

For Becker or Duchenne how do you make the diagnosis?

A

Exam, CK, AST, ALT, genetic testing, EMG, and muscle biopsy

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10
Q

Besides corticosteroids for Becker or Duchenne, what other treatment can you offer?

A

Ca/Vit D (for fractures); ACE & Beta Blockers (for Cardiomyopathy); Defibrillator (cardiomyopathy); Pulm support

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11
Q

If a young patient presents with contractures at the elbows, ankle plantar flexion, and spine, what diagnosis?

A

Emery-Dreifuss MD

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12
Q

How do you diagnosis Emery-Dreifuss MD and what are some of the complications?

A

EMG & genetic testing.
Complications = arrhythmias and cardiomyopathies

Most still ambulate 20 years after diagnosis

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13
Q

If a patient finds that he goes to shake a person’s hand and cannot relax or let it go, what is this?

A

Myotonic Dystrophy

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14
Q

What type of MD is the most common?

A

Myotonic Dystrophy

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15
Q

If a patient develops MD as an adult or child with baldness, fatigue, and cataracts along with muscle stiffness?

A

Type 1 Myotonic Dystrophy

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16
Q

If a person with Myotonic Dystrophy develops cardiac problems, stiffness, and respiratory functions?

A

Type 2 Myotonic Dystrophy

17
Q

What form of MD affects the shoulders and hips causing contractures?

A

Limb-Girdle MD

18
Q

How does Limb-Girdle MD affect the life?

A

Usually not affected; cardiac involvement is low; just need to do frequent stretching

19
Q

If a 25 year old patient presents with mild facial weakness – a pouting appearance – and on PE you also find shoulder weakness, with a history of frequent shoulder dislocations?

A

Fasiosapulohumeral MD

20
Q

How do you diagnose Fasiopsapulohumeral MD?

A

Try a push up & sit up. Scapular winging. Reversal of anterior axially folds. Decreased hearing. Genetic testing. EMG patterns.

21
Q

If a patient presents with ptosis and dysphagia with tongue atrophy, what is the diagnosis?

A

Oculopharyngeal MD

22
Q

If a patient has dysphagia, what are they at risk for?

A

Aspiration/pneumonia

23
Q

If a patient lacks muscle tone at birth - “floppy baby” – what diagnosis are you thinking?

A

Congenital MD

24
Q

In general, how do you diagnose most MD disorders?

A

Clinically & genetic testing