MUSCULAR DYSTROPHY(MD) Flashcards
(29 cards)
Muscular dystrophy is a primary myopathy of the _________ or _________ muscles
There is progressive _________ and _________ of muscle fibres
It involves abnormal structural and biochemical alterations of the muscle.
skeletal ; striated
degeneration ; death
Muscular dystrophy directly involves the central and peripheral nervous systems or the neuromuscular junction.
T/F
F
It does not directly involve the central and peripheral nervous systems or the neuromuscular junction.
__________ MD is the most common MD
_______ MD is the second most common
Other types of MD are rare.
_____________ type is more common in French Canadians than in other groups.
Duchenne
Becker
oculopharyngeal
The etiology of MD is an abnormality in the _________________________________.
genetic code for specific muscle proteins.
All forms of MD are genetically hereditary in origin.
T/F
T
MDs are all classified according to the clinical phenotype, the pathology, and the mode of inheritance.
The inheritance pattern includes the __________,_________, and ____________ MDs.
Within each group of heritable MDs, several disorders exist.
sex-linked, autosomal recessive, autosomal dominant
Heritable MDs include the following:
Sex-linked MDs- ________,_________ , Emery-Dreifuss
Autosomal dominant MDs- Facioscapulohumeral, distal, _______,_______________
Autosomal recessive MD- _________ form
Duchenne, Becker
ocular, oculopharyngeal
Limb-girdle
___________ is The most common MD of childhood.
DUCHENNE MUSCULAR DYSTROPHY(DMD)
DUCHENNE MUSCULAR DYSTROPHY(DMD)
It is characterized by __________ , and loss of __________ ability leading to complete __________ dependence by ______ years of age.
An __________ inheritance is obtained in more than 50% of the patients, and about 30% are new mutation whereby the mother is not a carrier.
muscle wasting
walking
wheelchair
13
X-linked
The classical form pf DMD occurs only in (boys or girls?) where the abnormal gene is located on the ______ arm of the _______ chromosome.
Pathogenesis
The disease is genetically carried by (males or females?) butit characteristically affects (boys or girls?)
Boys
short
X; females
Boys
Pathogenesis of DMD
The lesion is characterized by severe and progressive loss of _________ _, which is provoked by the ________ of __________ , a protein in the muscle.
The deficiency allows an influx of ________ ions, which activates _________ to cause muscle degeneration.
Muscle fibres are subsequently replaced by _____ and ________ tissue.
These accumulate especially in the ______ muscles to give a false
impression of muscle growth “_________________”
These processes lead to progressive weakness that stretch from (proximal or distal?) to (proximal or distal?) aspects of the limbs.
muscle fibres
deficiency ; dystrophin
calcium ions ; proteases
fat ; collagen issue.
calf muscles
“pseudohypertrophy”
proximal ; distal
Clinical features of DMD
Present from ______ but becomes apparent from ages ____ to _____ .
Child is _____tonic with delay in achieving developmental milestones.
Infant ‘_____________’ when lifted by the ______ due to weakness of ____________ .
When fully manifest, the child develops difficulty in getting from the floor or climbing stairs.
birth ; 2 to 5.
hypertonic
slips through
armpit ; shoulder girdles.
Clinical features of DMD
The child exhibits ________ sign- To get up from the , the child first _____ to the _______ position, then adopts a ______________ posture, changes to __________ position and finally raises himself to stand erect with pushing the hands against the shins across the knees to the thighs.
Gower’s ; rolls
prone
hand and knee
hand and toe
Clinical features of DMD
Respiration is affected down the course of the disease due to weakening of _________ and _________ muscles, and the _________.
_________ involvement which occurs in all cases can contribute to early death.
Patients and mothers also tend to have a (low or high?) mental capacity with immediate memory most affected.
diaphragmatic
intercoastal
kyphoscoliosis.
Cardiac
low
LIMB-GIRDLE MUSCULAR DYSTROPHY
_______________ inheritance and thus affects ______________ in the family
Onset is _____ years
Autosomal recessive
boys and girls
10-20 years
LIMB-GIRDLE MUSCULAR DYSTROPHY
Pathogenesis
The muscles of the _________ and _________ girdles are involved early.
At a later stage the peroneal, anterior tibial, facial, and neck muscles become weak.
Pseudohypertrophy may occur in the _________ but rarely in the _________ muscles, instead the _________ and _________ muscles may undergo _________ with weakness.
pelvic ; pectoral
calf ; deltoid
deltoid ; biceps
atrophy
LIMB-GIRDLE MUSCULAR DYSTROPHY Clinical features
Rising from a _________ position and ______________ are the initial characteristic difficulties due to early involvement of the _______ and _______ muscles.
Gower’s sign is (present or absent?) and low back pain may become a major complaint.
_______ _______ are difficult to elicit in the limbs.
A majority of patients become chair bound by age of _____ years. _______ is also impaired and _______ does occur but rarely.
sitting ; climbing of stairs
gluteal ; iliopsoas
Tendon reflexes
30 years
Intelligence ; cardiomyopathy
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
This (mild or severe?) form is transmitted on an ______________ basis.
Symptoms are evident in ________ decade with atrophy and weakness which uniformly affects the ______ muscles making the face ___________.
Smiling, frowning and forceful eye closure becomes impossible. Eyes may remain partially open at _______ .
Patient cannot ________ or drink with ________. The face and forehead are _________ and cannot be _________.
Subsequently, the muscles of the _________ girdle are affected with difficulty in raising the arm together with elevation and _________ of the scapula.
mild ; autosomal dominant
second ; facial ; expressionless.
sleep ; whistle ; straw.
smooth ; wrinkled.
shoulder ; winging
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
Biceps and triceps are atrophied and weak
___________ and ___________ are very rare in this condition.
Sensorineural deafness and retinal detachment have also been recorded in these patients
___________ is retained and patients have a normal life span. However a severe variant have been described to manifest in infancy and the patients succumbs in adolescence.
Pseudohypertrophy
contractures
Intelligence
BECKER’S MUSCULAR DYSTROPHY (_____ onset __________ muscular dystrophy
This is the (mild or severe?) version
Onset commonly occurs at the age range of _______ years, although symptoms may be evident from as early as the first few years of life.
late
x- linked
mild
15-25 years
BECKER’S MUSCULAR DYSTROPHY
The clinical features are similar to DMD: weakness of the muscles of the hip giving rise to Gower’s sign and pseudohypertrophy of the calf and toe walking but _______ .
Heart can be involved and intelligence is retarded but much ______ than in Duchenne’s dystrophy.
milder
less
In BECKER’S MUSCULAR DYSTROPHY
Female carriers may be symptomatic
T/F
T
CONGENITAL MUSCULAR DYSTROPHY
The condition is inherited in an _______________ mode.
It is characterized by _____tonia and weakness within the first few months of life with onset in ________.
Infants present with _________ . Some may present with profound _________ with _________ and limitations of movement simulating _________ multiplex.
autosomal recessive
hypotonia ; utero.
floppiness.
muscle atrophy
contractures ; arthrogryposes
CONGENITAL MUSCULAR DYSTROPHY
Muscle weakness is more profound (proximally or distally?) than (proximally or distally?) and tendon reflexes are ________ or ________ .
The disease progresses very (slowly or rapidly?) and in some patients becomes __________.
proximally
distally
depressed ; absent.
slowly ; static.
