MD

Question 1

Muscular Dystrophy Overview

Answer 1

• Myogenic Disease
• Genetically determined
• Progressive degenerative course
• Muscle fiber changes
• -Degeneration
• -Regeneration (collateral sprouting)
• -Fibrosis

Question 2

General Signs and Symptoms

Answer 2

• Muscular degeneration (primarily the core and proximal mm)
• Hypotonia
• Muscle atrophy
• Pseudohypertrophy

Question 3

Dystrophin

Answer 3

-protein that links the muscle surface membrane [sarcolemma]
with the contractile muscle protein [actin]).
-a protein forming part of muscle plasma membrane
-is not normal in MD

Question 4

Duchenne’s Muscle Dystrophy

Answer 4

• occurrence - 1 in 5,000 male births
• males only (inherited X-linked recessive disorder)
• begins at around 3-5 years of age, weakness 1st in legs
• rapid progression - often in wheelchair by age 12, death in 3rd decade
• gene produces dystrophin is lacking

Question 5

DMD Physiology

Answer 5

• Drs often order a creatine kinase (CK) blood test
• CK is an enzyme that leaks out of damaged muscle.
• When elevated CK levels are found, it usually means muscle is being destroyed by some abnormal process, such as a MD or inflammation.
• High CK level suggests that the mm themselves are the likely cause of the weakness, but must differentiate what the muscle disorder might be

Question 6

Weakness

Answer 6

• Symmetrical weakness and atrophy in para-axial (trunk) & proximal muscles
• Pseudohypertrophy due to connective tissue and fatty deposits in the muscles (most commonly in bilateral calf muscles)
• Hypotonia

Question 7

PT

Answer 7

no strenuous exercise—causes muscle breakdown! (pushing into muscular fatigue > damages cells)

• muscles weaken, joint contractures can develop and tendons can shorten, restricting flexibility and mobility
• provide regular ROM exercises to keep joints as flexible as possible, delaying the progression of contractures and scoliosis
• Assist in maintaining function and functional mobility as long as possible

Question 8

Gower’s Sign

Answer 8

• sign that indicates weakness of the proximal muscles, namely those of the lower limb.
• describes a pt that has to use their hands and arms to “walk” up their own body from a squatting position due to lack of hip and thigh muscle strength.

Question 9

Ambulation and Health Status

Answer 9

• Usually loose the ability to ambulate by 10-12 years
• -The longer you can keep these kids out of a WC, the better!
• Significant # of pts are intellectually or mentally impaired
• By the early teens or even earlier, the boy’s heart and respiratory mm also may be affected.

Question 10

Diagnosis

Answer 10

• Creatine kinase (CK) blood test
• Genetic testing
• EMG, Ultrasonography, Muscle biopsy

Question 11

Meds and Diet

Answer 11

• Corticosteroids such as Prednisone have been found effective in slowing the course of DMD.
• Calcium supplements and vitamin D are often prescribed with prednisone to counteract the osteoporosis
• Low-calorie, low-sodium diet is usually recommended to help offset the weight gain and fluid retention seen with corticosteroids

Question 12

Interventions

Answer 12

• Surgery, bracing, AD

- PT