L3.2 Neuromuscular Diseases Part 2 Flashcards
group of inherited, primary diseases of muscle characterized by progressive loss of strength in specific muscle groups.
Muscular dystrophies
The most common form of muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy is recessive/dominant sex-linked gene located on the chromosome ___ and carried only by males/females.
recessive, X, females
Duchenne muscular dystrophy is also known as
pseudohypertrophic muscular dystrophy
Progressive disease in which the child becomes weaker and usually dies of a respiratory infection or cardiorespiratory insufficiency in the late teen or early 20s
Duchenne muscular dystrophy
T/F.
Most frequent presenting symptom of DMD is
- Abnormal gait
- Frequent falls
- Difficulty climbing steps
T
Gait pattern of DMD :
toe walking with compensatory adaptation to weak knee flexor/extensor and lordotic posture of spine as a compensation to hip flexor/extensor weakness
knee extensor, hip extensor
____ is the deficiency at the plasma membrane of muscle & disrupts membrane cytoskeleton and leads to secondary loss of other components of muscle cytoskeleton
dystrophin
dystrophin
1. causes membrane instability leading to membrane injury
2. Causes aggressive fibrotic replacement of muscle and eventually there is failure of regeneration with muscle fiber death and loss
T,F
F,T
both T
both F
both T
_____ is required inside muscle cells for structural support & strengthen muscle cells by anchoring elements of the internal cytoskeleton to the surface membrane.
dystrophin
Absence of dystrophin leads to disruption of linkages in cytoskeleton of cell membrane. This leads to
a. membrane microtears
b. Increase calcium channel leaks
c. necrosis of cell
d. all
d
Without _____, the cell membrane becomes permeable, so that extracellular components enter the cell, increasing the internal pressure until the muscle cell “explodes” and dies. The subsequent immune response can add to the damage.
dystrophin
T/F. DMD onset is noted before 5 years
F, 4 yrs.
Apparent enlargement of calf and sometimes other muscles which is due to an accumulation of fat and connective tissue in the muscle
Pseudohypertrophy
T/F. Enlarged tongue (macroglossia) causes wide arch to mandible and maxilla with separation of teeth
T
T/F. Mild mental retardation has been noted in some boys with Duchenne dystrophy
T
- Cardiac abnormalities – dystrophic protein is present in both myocardium and cardiac Purkinje fiber
- Nearly all patient over 12 demonstrates abnormalities in ECG
T,F
F,T
both T
both F
T, F (over 13)
Respiratory difficulties of DMD are due to:
a. Weakness of respiratory muscles
b. Alteration in respiratory system mechanics
c. Impairment of central control of respiration
d. All
d
- Breathing becomes affected during the earlier stages of Duchenne, leading to respiratory infections
- Severe respiratory and heart problems mark the disease’s final stages, usually in the boy’s teens and early 20s
T,F
F,T
both T
both F
F (later stages), T
Diagnosis for DMD includes:
a. Family history
b. History of malignant hyperthermia during general anesthesia for an unrelated surgical intervention
c. Elevated CK
d. all
d
Complications of DMD include:
a. Contractures
b. Scoliosis
c. Respiratory tract infection
d. Bed sores
e. All
e
DMD functional grades of UE.
what grade is:
Standing with arms at the sides, patient can abduct the arm in a full circle until they touch above the head
1
DMD functional grades of UE.
what grade is:
Patient cannot raise hands above the head, but can raise an 8 oz glass of water to the mouth (using both hands if necessary)
3
DMD functional grades of UE.
what grade is:
Patient can raise arm above head by flexing the elbow or using accessory muscles
2
DMD functional grades of UE.
what grade is:
Patient can raise hands to the mouth but cannot raise an 8 oz glass of water to the mouth
4
DMD functional grades of UE.
what grade is:
Patient cannot raise hands to the mouth and has no useful function of hands
6
DMD functional grades of UE.
what grade is:
Patient cannot raise hands to the mouth but can use the hands to hold a pen or pick up pennies from a table
5
DMD functional grades of LE.
what grade is:
Walks and climbs stairs without assistance
1
DMD functional grades of LE.
what grade is:
Walks and climbs stairs slowly (elapsed time of more than 12 seconds for four standard stairs) with aid of a railing
3
DMD functional grades of LE.
what grade is:
Walks and climbs stairs with the aid of a railing
2
DMD functional grades of LE.
what grade is:
Walks unassisted and rises from a chair, but cannot climb stairs
4
DMD functional grades of LE.
what grade is:
Walks unassisted but cannot rise from a chair or climb stairs
5
DMD functional grades of LE.
what grade is:
Walks only with assistance or walks independently with long leg braces
6
DMD functional grades of LE.
what grade is:
Is in a wheelchair
9
DMD functional grades of LE.
what grade is:
Is confined to bed
10
DMD functional grades of LE.
what grade is:
stand in long leg braces, but is unable to walk even with assistance
8
DMD functional grades of LE.
what grade is:
Walks in long leg braces, but requires assistance for balance
7
What is the treatment of DMD
a. No pharmaceutical treatment
b. Glucocorticoid corticosteroids
c. Creatine monohydrate
d. Myoblast transplant
a.
Given between 6 months to 2 years have improved function; kept those affected “stronger for longer”
a. No pharmaceutical treatment
b. Glucocorticoid corticosteroids
c. Creatine monohydrate
d. Myoblast transplant
Glucocorticoid corticosteroids
(natural occurring substance used by body builders) increased muscle performance
a. No pharmaceutical treatment
b. Glucocorticoid corticosteroids
c. Creatine monohydrate
d. Myoblast transplant
Creatine monohydrate
aim to replace missing dytrophin
a. No pharmaceutical treatment
b. Glucocorticoid corticosteroids
c. Creatine monohydrate
d. Myoblast transplant
d
____ is similar to the Duchenne form, but appears somewhat later in life and progresses more slowly.
Becker’s muscular dystrophy
