Muscular Diseases Flashcards
Most serious and most common of the MDs in childhood?
Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy (DMD) genetic type?
X-linked inheritance pattern
Duchenne Muscular Dystrophy (DMD) is also known as?
pseudohypertrophic muscular dystrophy
Onset of DMD?
between ages 3 and 5 years
S/S of DMD?
- Progressive muscle weakness, wasting, and contractures
- Calf muscles hypertrophy in most patients
- Loss of independent ambulation by age 9 to 12 years
- Progressive generalized weakness in adolescence
- Death from respiratory or cardiac failure
- GOWER’S SIGN
Loss of independent ambulation with DMD occurs at what age?
age 9 to 12 years
Death from DMD is due to?
respiratory or cardiac failure
Serum CPK and AST levels high are high during what period of DMD?
first 2 years of life, before onset of weakness
What happens to Serum CPK and AST levels as muscle deterioration occurs due to DMD?
they diminish
Which serum marker levels are high during the first 2 years of life, before onset of weakness due to DMD?
CPK and AST
Major complications of DMD include?
- Contractures & disuse atrophy
- Obesity
- Infection
- Respiratory and cardiopulmonary problems-
- may need Respirator, trach
DMD: Clinical Manifestations
- Waddling gait, frequent falls, Gower sign
- Lordosis
- Profound muscular atrophy in later stages
- Mild to moderate mental impairment; emotional disturbance common
patient 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.
Gower’s sign
Gower’s sign
patient 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.
Therapeutic Management of DMD
- No tx or cure
- maintain function as long as possible
- maintain good quality of life
protein that is critical to the health and survival of the nerve cells in the spinal cord responsible for muscle contraction
Survival Motor Neuron Protein
Muscular disorder cause by a defective auto recessive SMN protein?
Spinal Muscular Atrophy (SMA)
S/S of SMA?
- Breathing/feeding problems
- Low muscle tone (Hypotonia or floppy baby)
- Poor head control
- Little spontaneous movement
- Tongue fasiculations-twitching
- Progressive weakness moving distal to proximal
- Frequent and increasingly severe respiratory infections
- Nasal speech quality
- Worsening posture
Forms of the SMA?
Type I: Occurs in infancy and is most severe
Type II: Also occurs in infancy, although less severe symptoms
Type III: Least severe, symptoms may not occur until age two
Prognosis of the SMA?
- Type I: 2-3 years
- Type II: Longer, but death occurs during childhood
- Type III- May survive to early adulthood
Diagnostic Tests for SMA?
EMG, MRI of spine, Muscle biopsy, DNA test confirms diagnosis
Complications of SMA?
- Aspiration
- Contractures
- Respiratory infections
- Scoliosis
- Pain from immobility and secondary impairments
Purpose of PT in tx of SMA?
to prevent contractures in joints and scoliosis
Purpose of OT in tx of SMA?
to prevent contractures in upper extremities and for adapting environment for feeding, ADLS, access to writing and art activities
Purpose of Speech Therapy in tx of SMA?
for respiratory and feeding issues
Secondary Impairments R/T Immobility and Disease Progression of SMA?
- Scoliosis
- Hip misalignment
- Pain
- Joint contractures
- Calcium deficiency and osteopenia
- Constipation
- Respiratory issues
- Feeding and nutrition issues (may need G-tube)
Condition characterized by chronic inflammation of the synovial membrane leading to joint effusion and eventual erosion, destruction and fibrosis of the articular cartilage?
Juvenile Idiopathic Arthritis (JIA)
Juvenile Idiopathic Arthritis (JIA)
Condition is characterized by chronic inflammation of the synovial membrane leading to joint effusion and eventual erosion, destruction and fibrosis of the articular cartilage
Cause of JIA is unknown but at least two events are considered necessary:
- Immunogenetic susceptibility
- An external, environmental trigger
Clinical Manifestations of JIA?
- Joint swelling, stiffness especially after inactivity and in am,
- loss of ROM
- joints may be warm to touch & painful to touch
- Symptoms increase with stressors
- Growth retardation
- Uveitis in 8-20%
Onse of JIA?
before age 16 years
JIA peaks at what age?
1-3 & 8-10 years
Pauciarticular onset of JIA?
involves 4 or fewer joints
Polyarticular onset of JIA?
involves 5 or more joints
S/S of systemic onset of JIA?
high fever, rash, hepatosplenomegaly, pericarditis, pleuritis, lymphadenopath & joint involvement
Meds to tx JIA?
NSAIDs, SAARDs, corticosteroids, cytotoxic agents
The most common spinal deformity?
Scoliosis
3 planes of deformity in Scoliosis?
- Lateral curvature,
- spinal rotation
- thoracic hypokyphosis
average age of onset of Scoliosis?
10 years
average age start of puberty in boys?
11-12
average age start of puberty in girls?
10-11
Therapeutic Management of Scolosis Curves < 10°?
normal, no tx required
Therapeutic Management of Scolosis Curves < 20° and not progessing?
no Tx
Therapeutic Management of Scolosis Curves < 20°?
- treated with braces or surgery depending on the magnitude, location, type of curve, age and skeletal maturity of child, and any underlying or contributing disease processes
How many hours a day is the brace worn in a patient with scoliosis?
16-23 hrs/day
condition where the socket is too shallow and the ball (thigh bone) may slip out of the socket, either part of the way or completely?
Developmental Dysplasia of the Hip (DDH)
Developmental Dysplasia of the Hip (DDH)
condition where the socket is too shallow and the ball (thigh bone) may slip out of the socket, either part of the way or completely
Developmental DDH is more common in males or females, and what ethnicity?
- females
- caucasions
Risk factors of developing DDH?
- Low levels of amniotic fluid in the womb
- Being the first born
- Being female
- Breech position during pregnancy, in which the baby’s bottom is down
- Family history of the disorder
- Large birth weight
The Barlow and Ortolani tests are done to diagnosis which condition?
Developmental Dysplasia of the Hip (DDH)
This procedure dislocates the hip to test or DDH?
Barlow Test
This procedure reduces the hip to test or DDH?
Ortolani Test
A child affected with DDH and with bilateral dislocations will have what type of gait?
waddling gait
What is the Trendelenburg sign?
stand on affected side, unaffected hip goes down (normally goes up)
incomplete dislocation with some residual contact between femoral head and acetabulum?
Subluxable
Subluxable
The incomplete dislocation with some residual contact between femoral head and acetabulum?
What is the Pavlik Harness used for?
used to treat DDH
Therapeutic Management of DDH (6-18 months)?
Traction (e.g Pavlik Harness)
Therapeutic Management of DDH (after 18 months)?
surgical repair and placement in spica cast
avascular necrosis of the femoral head (usually unilateral)
Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease
- avascular necrosis of the femoral head (usually unilateral)
- Self-limiting, self-healing disease
Legg-Calve-Perthes Disease Usually occurs in children ages?
3-12
Legg-Calve-Perthes more common in?
males ages 4-8
Clinical Manifestations of Legg-Calve-Perthes Disease?
- Mild or intermittent pain in the anterior thigh and a “painless” limp
- Decreased abduction and internal rotation
Spontaneous displacement of the proximal femoral epiphysis in a posterior and inferior direction
Slipped Femoral Capital Epiphysis
Slipped Femoral Capital Epiphysis
Spontaneous displacement of the proximal femoral epiphysis in a posterior and inferior direction
When does Slipped Femoral Capital Epiphysis occur?
shortly before or during accelerated growth periods of puberty
Causes of Slipped Femoral Capital Epiphysis?
- Usually idiopathic, multifactorial
- hypothyroid, pituitary disorders
S/S of Acute SFCE?
severe hip pain with inability to bear weight?
S/S of Chronic SFCE?
- able to bear weight and walk with mild limp
- unable to internally rotate leg during an exam
Tx of SFCE?
- make patient non-weight bearing followed by surgical repair
