Peds Pathologies
. ~200,000 new dx ea year
. Males>Females
. Several different types, many have early childhood onset - ✔✔MD Demographics
. Affects 4 or fewer joints
. Mostly large joints
. Risk for iridocyclitis of the eye (20%)
. affects females 5x more than males - ✔✔Signs and Symptoms of Pauciarticular JRA
. Affects 5 or more joints
. Affects both large and smaller joints
. Often affects joints bilaterally
. Affects females 3x more than males - ✔✔Polyarticular JRA signs and symptoms
. Also known as Still's Disease
. ~20% of JRA cases
. High spiking fevers
. Rash on chest and thighs
. Total joint involvment
. Internal organs affected
- heart, liver, spleen, lymph nodes
. Affects girls equally to boys - ✔✔Systemic JRA signs and symptoms
. Amputations
. 2/2 trauma, vascular disease, tumors, infections, or burn injuries.
. 2/2 trauma 2x frequently than disease - ✔✔Acquired Limb Deficiencies: alt. name &
causes
. approx. 50% w/ MD population
. Males>Females
. Approx. 1/3 of boys w/ Duchenne MD do NOT have family hx of disease. -
✔✔Duchenne MD
, . Blood enzyme tests: dmgd mm release enzymes such as CK into blood
. Electromyography
. Genetic Testing
. Muscle biopsy
. Electrocardiography/echocardiogram - myotonic MD - ✔✔MD Tests
. Certain genes involved in making proteins that protect muscle fibers from damage are
defective.
. Ea form of MD caused by genetic mutation particular to that type of MD
. Many mutations inherited, but some occur spontaneously in mother's egg or
developing embryo, can be passed to next gen. - ✔✔Causes of MD
. common cause of congenital amputation (limb deficiency)
. 80% involve anomalies of fingers and hands
. sporadic, not hereditary
. entrapment of fetal parts in a fibrous amniotic band while in utero, amnion ruptures
early and entangles the fetus - ✔✔Amniotic Band Syndrome
. Duchenne MD
. Becker MD
. Myotinic MD
. Facioscapulohumeral Dystrophy (FSHD)
. Congenital
. Limb-Girdle - ✔✔Types of MD list
. Frequenct falls
. Difficulty getting up from lying or sitting
. Trouble running & jumping
. Waddling gait
. Walking on toes
. Large calf muscles
. Muscle pain & stiffness
. Learning diabilities - ✔✔Signs and Symptoms of Duchenne MD
. Hemiparesis
. ~200,000 new dx ea year
. Males>Females
. Several different types, many have early childhood onset - ✔✔MD Demographics
. Affects 4 or fewer joints
. Mostly large joints
. Risk for iridocyclitis of the eye (20%)
. affects females 5x more than males - ✔✔Signs and Symptoms of Pauciarticular JRA
. Affects 5 or more joints
. Affects both large and smaller joints
. Often affects joints bilaterally
. Affects females 3x more than males - ✔✔Polyarticular JRA signs and symptoms
. Also known as Still's Disease
. ~20% of JRA cases
. High spiking fevers
. Rash on chest and thighs
. Total joint involvment
. Internal organs affected
- heart, liver, spleen, lymph nodes
. Affects girls equally to boys - ✔✔Systemic JRA signs and symptoms
. Amputations
. 2/2 trauma, vascular disease, tumors, infections, or burn injuries.
. 2/2 trauma 2x frequently than disease - ✔✔Acquired Limb Deficiencies: alt. name &
causes
. approx. 50% w/ MD population
. Males>Females
. Approx. 1/3 of boys w/ Duchenne MD do NOT have family hx of disease. -
✔✔Duchenne MD
, . Blood enzyme tests: dmgd mm release enzymes such as CK into blood
. Electromyography
. Genetic Testing
. Muscle biopsy
. Electrocardiography/echocardiogram - myotonic MD - ✔✔MD Tests
. Certain genes involved in making proteins that protect muscle fibers from damage are
defective.
. Ea form of MD caused by genetic mutation particular to that type of MD
. Many mutations inherited, but some occur spontaneously in mother's egg or
developing embryo, can be passed to next gen. - ✔✔Causes of MD
. common cause of congenital amputation (limb deficiency)
. 80% involve anomalies of fingers and hands
. sporadic, not hereditary
. entrapment of fetal parts in a fibrous amniotic band while in utero, amnion ruptures
early and entangles the fetus - ✔✔Amniotic Band Syndrome
. Duchenne MD
. Becker MD
. Myotinic MD
. Facioscapulohumeral Dystrophy (FSHD)
. Congenital
. Limb-Girdle - ✔✔Types of MD list
. Frequenct falls
. Difficulty getting up from lying or sitting
. Trouble running & jumping
. Waddling gait
. Walking on toes
. Large calf muscles
. Muscle pain & stiffness
. Learning diabilities - ✔✔Signs and Symptoms of Duchenne MD
. Hemiparesis
