Professional Documents
Culture Documents
• Creatine kinase :
– Aids in narrowing the differential diagnosis if
greatly elevated (50 times normal)
– Increased in DMD, BMD, polymyositis, and
rhabdomyolysis
– Nonspecific if mildly elevated 2-3x normal
– Lower late in MD course due to severely reduced
muscle mass
– Not helpful for carrier detection
• Muscle biopsy
– Dystrophic changes include necrosis,
degeneration, regeneration, fibrosis and fatty
infiltration, sometimes mild inflammation
– Specific diseases may have inflammation,
intracellular vacuoles, rods, and other inclusions
on biopsy
• Biochemical muscle protein analysis
– Useful for specific identified protein that is missing
and many specific mutations may cause the same
deficiency
– Immunohistochemical protein staining
– Western blot – quantitates percent of normal
protein present
• Genetic analysis
– PCR for specific known defects
– Southern blot for nucleotide repeats
• Electromyography
– Useful if diagnosis not clear (biopsy has mixed
features)
– Differentiates neuropathic vs. myopathic
– Characteristic myotonic discharges in adults with
myotonia – “dive bomber” sound
– Perform after the CK
Progressive Muscular Dystrophy
Type Onset Age (years) Clinical Features Other organ systems involved
Myotonic Usually 2nd decade Slowly progressive weakness Cardiac conduction defects
May be infancy if of face, shoulder girdle, and Mental impairment
mother affected foot dorsiflexion Cataracts
Frontal baldness
Gonadal atrophy
Duchenne Muscular Dystrophy
• Presentation: 3-5 y/o with pseudohypertrophy of
calf muscles, frequent falls, slow running, and
waddling gait
• Prevalence of 1:3500
• Other organs affected
– Heart – cardiomyopathy
– Respiratory
– Intellect - 30 % with impairment IQ <75
• Testing
– Immunostaining with absence of dystrophin
– PCR testing available for common mutations (X21.2)
Treatment - Medications
• Steroids
– Briefly increase strength, slow progression in
dystrophinopathy for walking, arm use, and respiratory
function
– Weekend or 15-20/month as well as
prednisolone/deflazacort may minimize SE
• Dilantin and Tegretol raise the repolarization
threshold and improve myotonia
• Methylphenidate improves daytime somnolence in
DM
• Albuterol may help in FSH MD
• Creatine and glutamine may help delay
progression/improve energy in youngest with DMD
Therapy
• Contracture prevention
– Stretching exercises and postural changing
• Stretch the most contracture prone groups
(gastrocnemius, hip flexors, iliotibial bands,
hamstrings)
– AFO at night to supplement
• Strengthening/conditioning/endurance
– Goal is to maintain or improve muscle strength
and maximize functional ability – slight
improvement is possible
– Additional goal is to avoid muscular damage by
overwork or injury
• No eccentric contraction or delayed soreness
– Voluntary active exercise such as
swimming/hydrotherapy or cycling in ambulatory
children currently recommended
• Mobility aids
– Walking orthoses – KAFO
– Standing frames, standing wheelchairs, swivel walker
occasionally used
– Walkers where arm strength less affected
– Transfer board
– Wheelchair – power needed for independence
– Plan for indoor lift, van with lift, roll in shower
• Improving daily activities of daily living
– Physical and Occupational Therapy – teaching modified
techniques
– Antigravity orthoses are being developed to assist in
daily living activities
– Splinting and therapy to prevent hand contractures
• Surgery
– note the risk inherent to surgery – malignant
hyperthermia
– Tendon releases
• Achilles
– Need KAFO to walk post-op
– Relieves pain and allow shoe wear
• Hamstring and iliotibial band
– Relieves hip and knee pain or contracture
– Allows better gait compensation
– Scoliosis – spine stabilization
• Bracing is not effective with progressive
neuromuscular disease
• Timely correction of scoliosis is important for
patient comfort and respiratory ability
• Spine and scapular stabilization may aid
function of arms
– Ophthalmology
• Deficient eye closure oculomaxillofacial MD and
FSH MD may require artificial tears or
tarsorrhaphy
• Treatment for cataracts in Myotonic MD
• Respiratory
– Patients with morning headache, nightmares,
excessive daytime somnolence, mental dullness,
difficulty concentrating, increased colds,
coughing, or pneumonia should undergo
evaluation
– Influenza vaccine and pneumococcal vaccine
– In-exsufflator for airway clearance, cough assist
– Pulmonologist, pulmonary function testing
• Nutrition/GI
– Overweight and underweight are common
problems
• Overweight impairs mobility
• Underweight decreases strength & health
– Protein and calorie supplements
– Assess for dysphagia
– Intestinal hypomotility in DMD, CMD, and
myotonic dystrophy can require a bowel
regimen to prevent constipation
• Osteopenia/Osteoporosis
– Begins before walking stops, fractures may end
walking
– Worsened by steroids
– Calcium supplements, Miacalcin may help
• Psychology/Neuropsychological
– Education – aid in planning
– Special education may not be needed with
accomodation and modifications
– Progressive loss of function affects patient and
family