muscular dystrophy Flashcards
Described duchenne dystrophy
Hypertrophy of calves Progressive weakness Intellectual impairment Proliferation of connective tissue in muscle X linked recessive. 30% are new mutation
CLINICAL MANIFESTATIONS of duchenne dystrophy
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 involvementcauses of death in duchenne dystrophy
Occur at about 18 years
Respiratory failure on sleep
Intractable heart failure
Pneumonia,Aspiration and airway obstruction
labs of duchenne dystrophy
CPK 15000 -35000 even in presymptomatic including at birth
NORMAL CPK is incompatable with DX
CARDIAC; ecg ,echo, cxr regular F\U
For severity
diagnosis of duchenne dystrophy
DNA
MUSCLE BIOPSY
It is diagnostic and shows charachteristic features
Connective tissue proliferation
Degeneration and regeneration of myofibers
Inflammatory foci
necrosis
Clinical distinction between duchenne and becker
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 presentBECKER symptoms
Cramps are common symptoms
Atypical manifestation include:
-Myalgia
-Myoglobinuria
-Mg hyperthermiaSTEINERT DISEASE clinical manifestation
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
Examination for myotonia
Make fist
Striking thenar eminence with hammer
Pressing tongue with blade
ENDOCRINE ABNORMALITIES associated with STEINERT DISEASE
Hypothyroidism Adrenocortical insufficiency Diabetes mellitus TESTICULAR ATROPHY FRONTAL BALDNESS
SEVERE NEONATAL FORM of STEINERT DISEASE
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
STEINERT DISEASE diagnosis
DNA in blood CTG repeat
Prenatal DX is possible
MUSCLE BIOPSY IS NOT REQUIRED
STEINERT DISEASE treatment
NO specific medical RX
RX for complication
PHYSIOTHERAPY
MYOTONIA -phenytoin
-quinidine sulfate
-procainamide
-mexiletne
-carbamazepineEMERY-DREIFUSS
Scapuloperoneal or scapulohumeral
RARE disease
INHERITANCE
X linked recessive ,long arm
AUTOSOMAL DOMINANT onset later
risk sudden death vent.fibrillation
EMERY-DREIFUSS clinical
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 absentEMERY-DREIFUSS lab and diagnosis
CPK mild elevation
muscle biopsy for defenitive DX
LIMB-GIRDLE M.DYSTROPHY
Group progressive hereditary myopathies
Mainly muscle HIP and SHOULDER
Distal muscle ATROPHIC and WEAK
Hypertropy of calves Ankle cntractures
LIMB-GIRDLE M.DYSTROPHY clinical
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 DLIMB-GIRDLE M.DYSTROPHY IHERITANCE
IHERITANCE
A.D long arm ch 5 BENING
A.R long arm ch 15 MOST COMMON
LIMB-GIRDLE M.DYSTROPHY labs and diagnosis
MUSCLE BIOPSY
Non specific enough to make DX
ADHALEN dystrophin related-glycoprotein of the sacrolema is deficient
ECG is normal
FACIOSCAPULOHUMERAL M.D FSH
LANDOUZY-DEJERINE DISEASE
NOT single entity
A.D Genetic Anticipation
Earliest,Most severe weakness
Face,shoulderFACIOSCAPULOHUMERAL M.D FSH clinical
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
FACIOSCAPULOHUMERAL M.D FSH lab and diagnosis
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
FACIOSCAPULOHUMERAL M.D FSH treatment
Physiotherapy no value
RX foot drop and scoliosis
Cosmetic facial surgery
CONGENITAL MUSCULAR DYSTROPHY
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 formsCONGENITAL MUSCULAR DYSTROPHY lab and diagnosis
CPK hundreds to thousands
EMG.non specific MYOPATHIC Pattern
DIAGNOSIS
MUSCLE BIOPSY is diagnostic in N.N.P
