Term
| at what age does duchenne's muscular dystrophy become apparent? |
|
Definition
| 2-3 years old in young boys when they begin to walk (Die by 20's) |
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|
Term
| how is duchenne and becker muscular dystrophy inherited? |
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Definition
|
|
Term
| what chromosome is affected in duchenne and becker's md? |
|
Definition
| Xp21 - impairs dystorphin production |
|
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Term
| what is the function of dystrophin? |
|
Definition
| connects f-actin to sarcolemma of skeletal muscle |
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|
Term
| what muscle groups are affected in duchenne's md? |
|
Definition
| neck flexors, proximal lower extremity muscles |
|
|
Term
| what muscles are preserved in duchenne's? |
|
Definition
| foot plantar flexor and inversion |
|
|
Term
| what muscles become hypertrophic in duchenne's? |
|
Definition
| CALVES, quadricepts, gluteals, and deltoids (later replaced by fat which is called psuedohypterophy) |
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|
Term
| what orthopedic proproblem is seen with duchenne's? |
|
Definition
| Kyphoscoliosis and contractures |
|
|
Term
| how is the cardiac system affect in duchenne's? |
|
Definition
| abnormal EKG's, tachycardia, cardiac fibrosis |
|
|
Term
| how is the central nervous system affected in duchenne's? |
|
Definition
| IQ is 1 standard deviation below normal |
|
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Term
| what enzyme is elevated in duchennes and beck's muscular dystrophy? |
|
Definition
| Creatine kinase (elevated 10-20x in duchennes and elevated 10x in becker's) |
|
|
Term
| what would a muscle biopsy of a patient with duchenne's md show? |
|
Definition
|
|
Term
| what are treatment options for a duchenne's muscular dystrophy patient? |
|
Definition
Steroids? – age 5 until wheelchair bound
Supporting
braces
Adequate wheelchair/posture
spinal stabilization surgery
portable ventilators |
|
|
Term
| how is becker's different from duchenne's? |
|
Definition
| later onset (5-15 y/o), 90% live past 20 y/o, surivive to 4th or 5th decade, some dystrophin seen in muscle biopsy, IQ isn't affected |
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|
Term
| what is the most common form of muscular dystrophy? |
|
Definition
|
|
Term
| what is the classical appearnce of myotonic musclar dystrophy? |
|
Definition
ptosis, facial muscle weakness, weakness and fasting of the temporalis muscles
SCM, tongue & palate weak |
|
|
Term
| which muscular dsystophy has distal weakness? |
|
Definition
| myotonic muscular dystrophy |
|
|
Term
| how can you diagnose myotonic muscular dystrophy? |
|
Definition
| ask patient to grasp examiners fingers, percuss thenar eminance or tongue |
|
|
Term
| what are the non-musclar findings of myotonic md? |
|
Definition
metal retardation
cardiac conduction abnormalities
respiratory insufficiency - central hypoventalation & muscle weakness
cataracts
frontal balding
endocrine dysfunction - insulin resistance and decreased testosterone |
|
|
Term
| what are creatine kinase levels in patient with myotonic md? |
|
Definition
|
|
Term
| what is the pattern of inheritance of myotonic md? |
|
Definition
autosomal dominant disorder
shows Anticipation! |
|
|
Term
| what cardiac findings are found in myotonic md and how is it treated? |
|
Definition
| abnormal conduction is treated with cardaic pacemakers |
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