Saturday, February 20, 2010

Dystrophinopathies in adults: pearls

See also and here are ten more pearls

1.  Many DMD patients now live into 30s and 40s as do carriers or those with BMD.  DMD frequency is about 1:3500 whereas BMD is 1:15,000 to 1:35,000.

2.  Dystrophinopathy should be suspected in a child or adult with the following clinical signs/symptoms:  progressive skeletal muscle weakness, increased CPK, intellectual impairment, myalgias, or cardiomyopathy.

3. BMD patients by convention ambulate after 16.  In 40 + year olds, isolated quad weakness can be confused with IBM.  EKG findings are similar to DMD  (arrythmias or decreased EF requiring Ace inhibitors).  Chronic respiratory insufficiency can be associated with right heart failure.

4.  Minimally symptomatic BMD with exertional intolerance, myalgia, myoglobinuria, or elevated CK diagnostic yield increases with subtle signs such as clumsy as child, toe walking, positive family history, calf or tongue hypertrophy, or myopathic units on EMG. 

5.  All patients regardless of symptoms should have periodic pulmonary function testing, EKG, and echocardiography.

6.  Vaccinations including pneumococcal and influenza are recommended with low threshold for treating potential infections with antibiotics.

7.  Anesthetic risks mandate patients wear a med alert bracelet. These risks are minimized with nondepolarizing muscle relaxants. 

8.  Bowel program plus suction continuous via gj tube reduces abdominal pain.  Restricted jaw opening can mandate placement of a tube. 

9. Consider seated position or other creative safety measures during surgery if possible and if indicated.

10.  PT with range of motion and stretching exercises are hallmark.

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