unit 6 Flashcards
What is the most common form of MD?
-DMD
What gender does DMD most commonly affect and why?
-Males; It is a recessive X linked gene
Can Females be carriers of DMD?
-Yes, can be recessive in one “x” and be masked by the other “x”
What is the halmark sign of DMD?
-Insidious progressive weakness
Who long do those with DMD usually live?
-Until late teens or early adult
What causes the progressive weakness with DMD?
-The absence of Dystrophin which leads to a break down of muscle fibers
What age is DMD normally Diagnosed?
-3 to 7
How do children with DMD present in early infancy?
-Normal; gross motor milestones met
What motor milestones are not met by those with DMD?
-Advanced (running, Jumping, etc); why it is diagnosed after infancy
Where does weakness due to DMD present first?
-Neck flexors and abdominals; then the pelvic girdle
In the Extremities what muscles are usually weakest early on?
-Extensors
What is a hallmark of DMD that commonly presents in the calves of patients?
-Psuedohypertrophy
What is psuedohypertrophy?
-an increase of muscle size without an increase of strength; due to fibrosis and CT accumulation in muscle tissue
What percent of those with DMD have cognitive issues?
-30%
What is Gowers Sign?
-When a child has to “walk” their hands up their LEs to stand Erect after bending over; indicative of proximal weakness (especially the pelvic girdle)
How will breathing impairments be first commonly seen in those with DMD?
-They will not be able to manage their breath while speaking
What is the Vignos Scale?
-A way to classify those with DMD by Function; 1 being most functional and 10 being the least
What is a 1 on the Vignos Scale?
-walks and climbs stairs without assistance
What is a 2 on the Vignos Scale?
-Walks and climbs stairs with use of railing
What is a 3 on the Vignos Scale?
-Walks and climbs stairs slowly with railing
What is a 4 on the Vignos Scale?
-Walks but cannot climb stairs
What is a 5 on the Vignos Scale?
-Walks but cannot climb stair or get out of chair
What is a 6 on the Vignos Scale?
-Walks only with assitance or braces
What is a 7 on the vignos scale?
-In wheel chair, sits erect and can roll chair and perform bed and wheelchair ADLs
What is an 8 on the VIgnos Scale?
-In wheel chair, sits erect- cannot perform ADLs without assistance
What is a 9 on the VIgnos scale?
-In wheelchair, can only sit erect with support only, can perform minimal ADLs
What is a 10 on the Vignos Scale?
-in bed; can do no ADLs without Assistance
What is the PRIMARY impairment of DMD?
-Insidious Muscle Weakness
What are the secondary impairments of DMD? (7)
-Contractures, malalignment, osteopenia, respiratory and cardiac dysfunction, easy fatigue, obesity, impaired GI motility
Why is positioning important in those with DMD?
-becuase of respiratory dysfunction
By what age are those with DMD usually wheelchair users?
-8 to 12
What treatment can prolong a child with DMD’s ability to ambulate?
-Corticosteroid (standard medical treatment)
What besides walking can corticosteroids also prolong for those with DMD?
-Standing, pulmonary funcition, and isometric strength
What are the predictors for loss of ambulat ability? (3)
- 50% reduction in LE strength
- MMT <3 for hip flexors and <4 of DFs
- Inability to climb stairs
A ten meter walk test most than 9 seconds predicts with a person with DMD will lose the ability to ambulate in how many years?
-2
A ten meter walk test most than 12 seconds predicts with a person with DMD will lose the ability to ambulate in how many years?
-1 year
Prolonging what can decrease the risk for scoliosis and osteopenia in those with DMD?
-Standing and walking
What do interventions normally focus on with DMD?
-Compensation to perform participations (progressive disease– will not recover)
What should an HEP of those with DMD include?
-ROM and stretching to prevent contractures
How should strengthening exercises be perform with those with DMD?
-mildly
When should you teach AD management and use for those with DMD?
-before the sesation of walking
What type of contraction is contraindicated for those with DMD?
-Eccentric
What interventions are normally recommended for those with DMD?
-ADL management and stretching
What are Late Effects?
-effects from cancer treatment that a survivor may endure years later
Cancer Treatment of the CNS can cause what impairments?
-Cognitive, hearing and visual impairments
Treatment of the CNS, Head, Neck, or Gonads can cause endorcrine abnormalities that can cause what?
-short stature, hypothyroidism, and delayed secondary sexual development
Cancer treatment of the MSK system can cause what?
-scoliosis or spinal shortening
What is the most common pediatric cancer?
-Acute Lymphoblastic Luekemia (80%)
What ages is ALL most common in?
-2 years to 5 years
What is the survival rate of ALL?
-90%
What type of luekemia presents between the ages of 0 and 2?
-Acute Myelocytic Luekemia
What is the Survival Rate of AML?
-63%
What is the second most common pediatric cancer?
-Brain and CNS tumors
What are the Signs and Symptoms of Luekemias? (6)
-Enlarged Lymph nodes, Enlarged liver or spleen, fever, easy bleeding or bruising, night sweats and weight loss
What are the signs and symptoms of Lymphomas? (7)
-Painless elargment of lymph nodes, night sweats, persistent fatigue, fever and chills, unexplained weight loss, anorexia, pruritis (itching)
What are the signs and symptoms of Sarcomas? (4)
-Intermittent pain that is worse at night, swelling, decreased ROM, Altered gait pattern
What are the signs and symptoms of Brain and CNS cancers? (9)
-Headache, Vomitting, vision, speech and hearing changes, worsening balance, unsteay gait, unusual sleepiness, and weakness
What are the late effects of radiation therapy?
-Fibrosis and tissue injury
Luekemia may present with what physical impairment?
-decreased ankle dorsiflexion, hand grip strength
The luekemia treatment Vincristine may cause what?
-poor balance and peripheral neuropathy
What causes SMA?
-Degeneration of anterior horn cells (alpha motor neuron)
How will reflexes present with SMA?
-hypo or areflexic
What type of disease is SMA?
-Autosomal recessive– also progressive
What is the main impairment you will see with SMA?
-severe and progressive weakness of skeletal muscle
What muscles are more affected by SMA?
-Proximal (trunk), but will involve extremities as it progresses
Where will fasciculations present with SMA?
-the tongue
Where will tremors present with SMA?
-hands
What other impairments will children with SMA have?
-impaired feeding and breathing
What are two secondary impairments due to SMA?
-Contractures and scoliosis
What is another name for Type I SMA?
-Werdig Hoffman Syndrome
What is the most severe and most common type of SMA?
-Type I
When is the onset of type I SMA?
-within the first few weeks or months of life
Children with Type I SMA will not acheive the ability to do what?
-sit, no antigravity movements,
Onset of Type II SMA occurs when?
-during the first year of life
Children with Type II SMA will be able to do what/ will not be able to do what?
- Will be able to sit independently
- Stand with assistance
- Ambulate with external bracing
Those with type II SMA are normally what kind of ambulators?
-household; or for exercise— not much function
What is another name for type III SMA?
-Kugelburg Walender Syndrome
What is the Mildest form of SMA?
-Type III
Those with Type III SMA will be able to do what at some point?
-Ambulate without assistance
What are the most common impairments with type III SMA?
-proximal LE weakness and fatigue
When does Type III SMA present?
-within the 1st decade of life
Presentation of Type III SMA is similar to what?
-DMD
Type IIIA SMA is diagnosed when?
-Before 2 years
Type IIIB SMA is diagnosed when?
-After 2 years
50% of those with type IIIA SMA will retain the ability to walk until when?
-after 12 years
50% of those with type IIIB SMA will retain the ability to walk past when?
-44 years
