What is Muscular Dystrophy?
It is a group of inherited disorders that lead to progressive degeneration of skeletal muscles, apparently from lack of a protein (merosin) that is necessary for muscle contraction
What causes it?
The cause of MD is unknown, but there may be a genetic influence for most of the major types. Some forms of MD are transmitted as autosomal dominant or recessive traits, whereas others are sex-linked.
What is its pathophysiology?
The exact pathophysiology mechanisms are unknown, but three theories have been advocated.
a. Vascular theory
This theory suggests that a lack of blood flow causes the typical degeneration of muscle tissue.
b. Neurogenic theory
This theory proposes a disturbance in nerve-muscle interaction.
c. Membrane theory
This theory that cell membranes are genetically altered, causing a compromise in cell integrity.
What is its pathogenesis?
Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene at locus Xp21.
What are the types of MD?
a.Congenital Myotonic Dystrophy
Inherited as.. Autosomal dominant trait
Predominant Symptom Severe myotonia
Diagnosis Serum analysis and muscle biopsy
b. Fascioscapulohumeral Muscular Dystrophy
Inherited as.. Dominant trait carried on chromosome 4
Predominant Symptom Facial weakness
Diagnosis Serum analysis and muscle biopsy
c. Pseudohyopertrophic Muscular Dystrophy (Duchenne’s Disease)
Inherited as.. Sex-linked recessive trait
Predominant Symptom
Diagnosis Muscle biopsy, electromyography and serum creatine phosphokinase
analysis
What are the clinical signs and symptoms of Duchenne’s MD?
- have a history of meeting motor milestones
- waddling gait and difficulty climbing stairs
- walk on their toes
- positive for Gower’s sign
- speech and swallowing becomes difficult
- difficult to lift a young child
- calf muscles are hypertrophied
- muscle weakness
- scolosis of the spine and fractures of long bones
- wheel chair dependent
- tachycardia
- pneumonia
What are the ways to manage this disease?
a. Nursing
- Encourage the patient to remain ambulatory for as long as possible
- Help plan the child and family plan a program of active and passive daily ROM
- Apply splints and braces
- Encourage a low-calorie, high protein diet
- Encourage a high intake of fiber and fluids
- Advocate for a stool softener if necessary
- Provide support for parents
b. Medical
- Administer prednisone (dosage of 0.75 mg/kg or less)
c. Surgical
- Myoblast transfer therapy
I.
Nursing Diagnosis:
Impaired physical mobility related to progressive muscle wasting
Plan:
The client will remain physically active.
Nursing interventions:
Reinforce physical therapy regimen.
Encourage activity (e.g., school attendance, swimming)
Encourage the use of adaptive equipment as needed (e.g., back brace)
II.
Nursing Diagnosis:
Self care deficit related to progressive muscle weakness
Plan:
The client will be able to perform activities of daily living(ADL) as long as possible
Nursing interventions:
Instruct the family in ways to adapt the home as needed ( grab bars, overhead sling, raised toilet, wheelchair access)
Focus on the things the child can do to prevent frustration.
Maintain the child’s independence as long as possible (e.g., via a n electric wheelchair or portable phone)
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Sources:
Adele Pillitteri, 5th Ed. Maternal & Child Health Nursing: Care of the Childbearing & Childrearing Family. Volume 2 page 1635
Klossner, Hatfield, Introductory Maternity & Pediatric Nursing p.724
Ignatavicus, Workman. Medical – Surgical Nursing Critical Thinking for Collaborative Care. p. 1183
http://books.google.com.ph/books?id=-WP4y6Ve3eMC&pg=PA1462&lpg=PA1462&dq=nursing+diagnosis+for+duchennes+muscular+dystrophy&source=bl&ots=F7Z3nDO1Aa&sig=6hBQrCtoUwxTN2Sfw2FFFyFlpUs&hl=tl&ei=C6FuS-CRKY2A7QOVzNH6BQ&sa=X&oi=book_result&ct=result&resnum=5&ved=0CCQQ6AEwBA#v=onepage&q=&f=false
http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm
http://www.ncbi.nlm.nih.gov/pubmed/2012511
http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy
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