muscular dystrophy 1/2 Flashcards
What is the prevalence of muscular dystrophy in children?
Most common neuromuscular disorder
What are symptoms of muscular dystrophy?
- Progressive symmetrical muscle wasting and loss of strength
- Calf muscle contractures lead to lead to toe walking causing calf muscle hypertrophy
- Increased lumbar lordosis compensating for weak abdominals and hip extensors
- Scoliosis
- Increasing levels of disability
What is the difference between Becker muscular dystrophy BMD vs Duchenne muscular dystrophy DMD?
Becker is similar in clinical presentation but has overall slower progression of symptoms and longer life expectancy
Becker able to ambulate 13-16yo
Duchenne gait deteriorates 7-12yo, switch to AD, death teens or 20s
What is the cause of Duchenne muscular dystrophy?
X-linked recessive trait only and male offspring
Female offspring become carriers
Genetic mutation in dystrophin gene, unable to code for muscle membrane protein dystrophin, destroys myofibrils and loss of muscle contraction.
When muscle contracts, damages sarcolemma and destroyed muscle cells are replaced with fat
What are the clinical presentation of Duchenne muscular dystrophy?
Gowers sign, proximal muscle weakness Waddling gait, clumsiness Toe walking Pseudohypertrophy of calf Difficulty climbing stairs Excessive lordosis
What is Duchenne muscular dystrophy?
Progressive neuromuscular degenerative disorder
Once fat and connective tissue begin to replace muscle destroyed by disease process
What age are patients typically diagnosed with duchenne muscular dystrophy?
2 to 5 years old
How is Duchenne muscular dystrophy diagnosed
Clinical Findings
Electromyography- electrical activity in muscle
Muscle biopsy- absence of dystrophin and decreased muscle fiber size
Confirmed by:
DNA analysis
High serum creatinine kinase levels in blood
What medications are used for management of Duchenne muscular dystrophy?
Glucocorticoids and immunosuppressants
What is focus of physical therapy for a patient with Duchenne muscular dystrophy?
Help progress patient through developmental milestones
Maintain function of unaffected muscles for as long as possible
Maintain available strength
Encourage mobility, adapt to loss of function
Promote family involvement at home
Manual muscle test and range of motion to determine rate of disability
Orthotic, AD, wheelchair prescription
Respiratory care
What physical therapy interventions may be used for patient with Duchenne muscular dystrophy?
Range of motion, prevent contractures Sub max exercises Positioning Pain management Breathing exercises Postural drainage Education on adaptive equipment Ongoing emotional support for family and child
What muscles are most affected by Duchenne muscular dystrophy?
Shoulder girdle muscles, pectorals, deltoids
Rectus abdominis
Gluteals
Hamstrings, calf muscles
