muscular dystrophy Flashcards

1
Q

Described duchenne dystrophy

A
Hypertrophy of calves
Progressive weakness
Intellectual impairment
Proliferation of connective tissue in muscle 
X linked recessive.
30% are new mutation
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2
Q

CLINICAL MANIFESTATIONS of duchenne dystrophy

A
ONSET;early childhood
Toddlers;lordotic posture
GOWER sign by age 3,fully5-6
AMBULATION 7-10-12 years يبطل قادر يمشي 
CONTRACTURES ankle,knee,hips,elbow
SCOLIOSIS;is common
CARDIOMYOPATHY 
        -constant feature 
        -no correlation skeletal involvement
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3
Q

causes of death in duchenne dystrophy

A

Occur at about 18 years
Respiratory failure on sleep
Intractable heart failure
Pneumonia,Aspiration and airway obstruction

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4
Q

labs of duchenne dystrophy

A

CPK 15000 -35000 even in presymptomatic including at birth
NORMAL CPK is incompatable with DX
CARDIAC; ecg ,echo, cxr regular F\U
For severity

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5
Q

diagnosis of duchenne dystrophy

A

DNA
MUSCLE BIOPSY
It is diagnostic and shows charachteristic features
Connective tissue proliferation
Degeneration and regeneration of myofibers
Inflammatory foci
necrosis

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6
Q

Clinical distinction between duchenne and becker

A
Less severe muscle weakness
      -Longer ambulatory period
Onset from 5 years to adolescence
Ambulation=12-30 mean 27years
Death;mean age 42years
Mental retardation not present
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7
Q

BECKER symptoms

A
Cramps are common symptoms
Atypical manifestation include:
                -Myalgia
                -Myoglobinuria
                -Mg hyperthermia
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8
Q

STEINERT DISEASE clinical manifestation

A
Normal at birth
Facial wasting
Inverted V shape upper lip
Thin cheeks, scalloped, concave tempo ales
Narrow head, cleft lip
Flat thenar and hypothenar eminences
Wasted sterocleidomastoide muscles      Neck thin ,long,cylindrical contour
Difficulty in climbing stairs
Gower sign 
Scapular winging
Distal distribution of muscle wasting
Very slowly progressive  RARE lose ability to walk    late adulthood
Poor articulation
Slurred speech
Aspiration pneumonia
 GASTRO INTESTINAL
Slow gasrtic emptying      constipation
UTERUS
Uneffective labour
ENDOCRINE ABNORMALITIES
HEART BLOCK
ARRYTHMIA
IMMUNEDEFIENCY
Iga
IQ 50% MR USUALLY MILD
CATARACT onset early or late
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9
Q

Examination for myotonia

A

Make fist
Striking thenar eminence with hammer
Pressing tongue with blade

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10
Q

ENDOCRINE ABNORMALITIES associated with STEINERT DISEASE

A
Hypothyroidism
Adrenocortical insufficiency
Diabetes mellitus
TESTICULAR  ATROPHY
FRONTAL BALDNESS
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11
Q

SEVERE NEONATAL FORM of STEINERT DISEASE

A
Mother with myotonic dystrophy
Club foot,cotractures all joint and spine
Generalized weakness. Hypotonia
Facial wasting
Nasogatric tube feeding
Ventilatory support (apnea)
Diaphragmatic dysfunction
Abominal distention. Decrease  peristalsis
75% DIE IN  FIRST YEAR
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12
Q

STEINERT DISEASE diagnosis

A

DNA in blood CTG repeat
Prenatal DX is possible
MUSCLE BIOPSY IS NOT REQUIRED

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13
Q

STEINERT DISEASE treatment

A
NO specific medical RX
RX for complication
PHYSIOTHERAPY
MYOTONIA      -phenytoin
                        -quinidine sulfate
                        -procainamide
                        -mexiletne
                        -carbamazepine
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14
Q

EMERY-DREIFUSS

A

Scapuloperoneal or scapulohumeral
RARE disease
INHERITANCE
X linked recessive ,long arm

AUTOSOMAL DOMINANT onset later
risk sudden death vent.fibrillation

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15
Q

EMERY-DREIFUSS clinical

A
Onset middle childhood slow progres. 
                survive late adult
NO hypertrophy
CONTRACTURES    early
WASTING  scapulohum.  Scapuloper.
FACIAL weakness  does  not occur
CADIOMYOPATHY     severe cause of death coduction defect
MYOTONIA absent
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16
Q

EMERY-DREIFUSS lab and diagnosis

A

CPK mild elevation

muscle biopsy for defenitive DX

17
Q

LIMB-GIRDLE M.DYSTROPHY

A

Group progressive hereditary myopathies
Mainly muscle HIP and SHOULDER
Distal muscle ATROPHIC and WEAK
Hypertropy of calves Ankle cntractures

18
Q

LIMB-GIRDLE M.DYSTROPHY clinical

A
ONSET middle or late childhood-early adulthood
Low back pain presenting feature—Lordotic posture—gluteal weaknes
Wheelchair obligatory at 30 years
Weakness neck flexores and extensores
Cardiac involvement       UNUSUAL
I.Q     NORMAL
DIFFERENTIAL DIAGNOSIS
Juvenile SMA  Kuglberg-Welander
                        BECKER M D
19
Q

LIMB-GIRDLE M.DYSTROPHY IHERITANCE

A

IHERITANCE
A.D long arm ch 5 BENING
A.R long arm ch 15 MOST COMMON

20
Q

LIMB-GIRDLE M.DYSTROPHY labs and diagnosis

A

MUSCLE BIOPSY
Non specific enough to make DX
ADHALEN dystrophin related-glycoprotein of the sacrolema is deficient
ECG is normal

21
Q

FACIOSCAPULOHUMERAL M.D FSH

A
LANDOUZY-DEJERINE  DISEASE
NOT single entity
A.D Genetic Anticipation
Earliest,Most severe weakness  
         Face,shoulder
22
Q

FACIOSCAPULOHUMERAL M.D FSH clinical

A
FACE
Mouth round  Lips protrude
Inability to close eyes complet…during sleep
Ass- Mobius syndrome rarely
Hearing loss.
Retinal vasculopathy .
Scapular winging prominent
Flattening or conc of deltoide contour.
Hip girdle and thigh muscle weak  atrophic
Gower sing  Trendelenburg gait
Contracures are rare
Foot Drop  weakness peroneal muscle
Lumbar lordosis,Kyphoscoliosis 
NO calf hypertrophy
23
Q

FACIOSCAPULOHUMERAL M.D FSH lab and diagnosis

A
CPK from NORMAL to THOUSANDS
ECG  usually NORMAL
EMG non specific myopathic potential
Muscle BIOPSY  distinguish more than one form of FSH
DNA  is diagnostic
24
Q

FACIOSCAPULOHUMERAL M.D FSH treatment

A

Physiotherapy no value
RX foot drop and scoliosis
Cosmetic facial surgery

25
Q

CONGENITAL MUSCULAR DYSTROPHY

A
The term is misleading
Severe involvement at birth
A.R inheritance is the rule
AT BIRTH contracture or ARTHROGRYPOSIS
                                        diffuse  HYPOTONIA
MUSCLE mass is thin
HEAD  control is poor
DYSPHAGIA  gavage feeding
D.T.R  hypoactive or absent
ARTHROGRYPOSIS is common in all forms
26
Q

CONGENITAL MUSCULAR DYSTROPHY lab and diagnosis

A

CPK hundreds to thousands
EMG.non specific MYOPATHIC Pattern

DIAGNOSIS
MUSCLE BIOPSY is diagnostic in N.N.P