2. ⢠8 year old boy
⢠Born out of non consanguineous marriage
⢠c/o weakness of lower limbs since 3 years of age
⢠Insidious onset ,
gradually progressed from the legs to involve the
thighs & hip
3. ⢠Difficulty in getting up from sitting position
⢠Difficulty in climbing stairs
⢠History of stumbling on walking a long
distance
⢠History of progressively increasing thickness of
calf muscles bilaterally
⢠History of thinning of both thighs
4. ⢠History of difficulty in swallowing
⢠History of recurrent lower respiratory tract
infections
⢠History of toe walking
⢠Pain in the calves bilaterally on more than daily
activities
since 1 year
5. ⢠No h/o difficulty in wearing footwear
⢠No h/o difficulty in combing,changing shirt,washing
face
⢠No h/o impaired vision/abnormal smell/drooling of
saliva/deviation of angle of mouth while eating
⢠No h/o stiffening of limbs/floppiness
⢠No h/o altered sensations
⢠No history s/o nystagmus/nodding movement of head
⢠No h/o bowel/bladder incontinence
⢠No h/o seizures/bed sores
6. ⢠No h/o fever,rash,joint pains,
headache,vomitings,convulsions,photophobia,altered
consciousness,head injury,
chronic constipation,lethargy,cold intolerance,
contact with case of TB
prior to the onset of symptoms.
⢠No h/o any drug intake
⢠No h/o similar complaints in the family
7. BIRTH HISTORY
⢠Booked case.Received regular antenatal
checkups,folic acid,iron tablets and immunization
with tetanus toxoid.No h/o fever with
rash/exposure to
radiation/drugs/PIH/GDM/hypothyroidism.
⢠Born by elective caesarean section at term,cried
immediately after birth,birth weight was 2.25kgs.
⢠On 4th DOL,h/o poor feeding and seizure like
activity for which he received iv antibiotics for
14days.No h/o NNJ.
8. DEVELOPMENTAL HISTORY
⢠Delay in development of gross motor
milestones. Can now walk without support for
a distance of about 10 feet but stumbles and
falls due to weakness.
⢠Can draw a triangle
⢠Names weekdays
⢠Knows times of the day
10. SUMMARY
⢠8yr old boy, born out of non consanguineous
marriage,with no significant birth history,with
delay in development of gross motor
milestones,admitted with c/o progressive
weakness of lower limbs,since 3yrs of age,with
proximal involvement more than distal,with
hypertrophy of calf muscles
⢠Most probably-myopathy -> primary->
?Muscular dystrophy
11. EXAMINATION
⢠PR- 98/min
⢠RR-18/min
⢠BP-120/70mmHg
⢠Temp-98.6 deg F
⢠2nd degree wasting acc to IAP
⢠2nd degree stunting acc to Mc Larenâs
⢠US:LS ratio 1.1 : 1
⢠HC-49cms
⢠CC-58cms
⢠Grade 2 PEM acc to IAP
12. ⢠Bulk of tongue >>
⢠Swelling present over anterior aspect of neck
which moves with deglutition
⢠No neurocutaneous markers/skin rash
⢠Upperlimbs- appear normal
⢠Lowerlimbs- calf muscles appear
hypertrophied bilaterally
15. Tone â normal in both upper limbs and lower
limbs
Bulk â Rt Lt
Thigh 23.5cms 27cms
Leg 22cms 23cms
Arm 14cms 14cms
Forearm 14cms 13.5cms
16. ⢠Relexes â Knee reflex absent bilaterally
Ankle reflex sluggish bilaterally
⢠Waddling type of gait seen
⢠Gower sign positive
⢠Superficial,deep,cortical sensations intact
⢠No cerebellar signs
⢠Skull normal
⢠Spine- scoliosis (rt.)
⢠Autonomic system normal
⢠No meningeal signs
17. RS â Normal vesicular breath sounds heard in all
areas.No added sounds.
CVS- S1,S2 present.No murmurs.
P/A-Scaphoid.Soft.Non tender.No organomegaly.
18. SUMMARY
⢠8 yr old boy,with delay in development of
gross motor milestones,with grade 2 PEM acc
to IAP,with progressive weakness of lower
limbs,proximal weakness more than distal
weakness,most probably of muscle origin,with
Gowerâs sign positive,with hypertrophy of calf
muscles,with waddling gait,with intact
sensations,with absent knee jerks.
19. Clinical features
Serum CK level of 17000 iu/l
Blood PCR shows point mutation of dystrophin
gene
Diagnosis: DUCHENNEâS MUSCULAR DYSTROPHY
20. DUCHENNEâS MUSCULAR DYSTROPHY
⢠Most common hereditary neuromuscular disease
⢠X linked recessive inheritance
⢠Mutation at Xp21 locus
⢠Characterised by :
1.Progressive weakness
2.Hypertrophy of calves
3.Proliferation of connective tissue in muscle
4.Intellectual impairment
21. ⢠Rarely symptomatic at birth/early infancy
⢠Delay in development of early gross motor
milestones
⢠Gowers sign evident by age 3 yrs,fully
expressed by age 6yrs.
⢠Waddling gait,toe walking,trouble in
running,walking upstairs
22.
23. ⢠Length of time a patient remains ambulatory
varies.Most can walk with increasing difficulty
until 10yrs age without orthopedic
intervention
⢠With orthotic bracing,can walk upto 12yrs age
⢠Scoliosis is common
⢠Enlargement of calves and wasting of thigh
muscles seen
24.
25. ⢠Tongue hypertrophy +
⢠Loss of knee deep tendon reflexes
⢠Cardiomyopathy seen in 50-80% of patients
with this disease
⢠Frequent pulmonary infections occur
⢠Smooth muscle dysfunction,anal/urethral
sphincter involvement rare
⢠Minor intellectual impairment occurs in all
patients
⢠Increased risk of epilepsy
⢠Death occurs by 18-20yrs age
26.
27.
28. ⢠Lab findings- Serum CK levels greatly elevated.
Aldolase,aspartate aminotransferase levels >>
but are less specific.
⢠EMG shows decreased responses
⢠NCV- normal
⢠Cardiac assessment by ECG,ECHO,radiography
of chest essential and should be repeated
periodically
29. ⢠Diagnosis â
ďśClinical features of DMD + elevated CK levels
PCR for dystrophin gene mutation
( muscle biopsy may be deferred)
ďś If PCR is normal and clinical suspicion is high
More specific dystrophin immunocytochemistry done on muscle
biopsy sections
33. ⢠Treatment- No cure.No method to slow
progression
Good nutrition
Physiotherapy,ambulation delays contractures
Prompt treatment of respiratory infections
Digoxin in cardiac failure
Steroids(prednisone/prednisolone/deflazacort)