1229 Exam 8: Muscular Dystrophy Flashcards
Duchenne Muscular Distrophy
- also called pseudo hypertrophic muscular dystrophy.
- most severe and common childhood dystrophy.
- x linked inheritance pattern (mainly boys)
- 1/3 are fresh mutations
- incidence 1 in 3500 male births
- results from mutations of the gene that encodes dystrophin.
What is muscular distrophy?
- largest group of muscular diseases in children
- all have genetic origin with gradual degeneration of muscle fibers, progressive weakness and wasting of skeletal muscles.
- all have increasing disability and deformity with loss of strength.
What is dystrophin?
A protein product in skeletal muscles.
Characteristics of DMD:
Progresses until death
Onset is 3-5 years of age
Progressive muscle weakness, wasting, and contracture s
Calf muscles hypertrophy in most patients
Progressive generalized weakness in adolescence
Death from respiratory or cardiac failure
How is DMD diagnosed?
-suspected based on clinical appearance
-Confirmed by EMG, muscle biopsy, and serum enzyme measurement
-serum CPI and ast levels high in the first two years of life, before onset of weakness
Level diminshed as muscle deterioration continues.
What does DMD look like?
Waddling gait Frequent falls Gower sign Lordosis Enlarged muscles-- ESP. Thighs and upper arms Profound muscular atrophy in later stages Metal deficiency common Mild mental retardation
Common clinical manifestations in late stage:
Profound muscular atrophy
Contractures
Deformities
Inability to ambulate by age 12
Complications of MD:
Contracture deformities Atrophy of disuse Infections Obesity Cardiac manifestations
Therapeutic management of DMD:
No effective treatment.* Primary goal: maintain function of ineffective muscles as long as possible Keep child as active as possible. ROM, bracing, performance of ADLs Surgical release of contractures PRN Genetic counseling for family
Nursing considerations of DMD:
Helping child and family cope with chronic, progressive, debilitating disease.
Design program to foster independence and activity as long as possible.
Teach child self help skills
What is cerebral palsy (cp)?
Characterized by onset and impaired movement and posture
Incidence is 1.5 to 3 per 1000 live births
Most common permanent physical disabilities in childhood
A new definition “a group of permanent disorders of the development of movement and posture, causing activity limitation that are attributed to non progressive disturbances that occurred in the developing fetal or infant brain”.
Etiology of CP:
- intrauterine hypoxia/asphyxia
- intrapartum asphyxia (12-23% of CP occurs interm infants with intrapartum asphyxia)
- post natal
- often no identifiable immediate cases
Preterm birth of EIBW and VLBW is single most important determinat of What?
CP!
Most common type of brain damage when it occurs?
Anoxia
Types of CP:
Spastic Athetoid/dyskinesic Ataxic Mixed/dystonic Diplegia Monoplegia Triplegia Paraplegia
