2. Case presentationCase presentation
Adnan s/o Akbar zaman, 5Adnan s/o Akbar zaman, 5
months old, known case ofmonths old, known case of
SMA, presented with complaintsSMA, presented with complaints
of ;of ;
1- cough 3 days.1- cough 3 days.
2- fever 3 days.2- fever 3 days.
3. Case presentationCase presentation
According to the mother of theAccording to the mother of the
baby, he developed high gradebaby, he developed high grade
fever and cough 3 days back.fever and cough 3 days back.
Both were more sever at night.Both were more sever at night.
The cough is productive and theThe cough is productive and the
fever is continous. The baby isfever is continous. The baby is
unable to move lower limbs fromunable to move lower limbs from
birth. There is also reduction inbirth. There is also reduction in
the movements of uper limbs.the movements of uper limbs.
4. Case presentationCase presentation
The baby cant support the headThe baby cant support the head
and they are getting treatmentand they are getting treatment
for this condition of the babyfor this condition of the baby
from CMH Islamabad where hefrom CMH Islamabad where he
has been diagnosed as a casehas been diagnosed as a case
of SMA.of SMA.
5. Case presentationCase presentation
There is history of repeatedThere is history of repeated
hospitalization for LRTI.hospitalization for LRTI.
1 brother and 2 sisters of the1 brother and 2 sisters of the
baby, all of them are normal. Nobaby, all of them are normal. No
family history of congenitalfamily history of congenital
abnormalities or infectiousabnormalities or infectious
diseases.diseases.
Father of the baby is driver.Father of the baby is driver.
6. Case presentationCase presentation
Regular antenatal checkup, withRegular antenatal checkup, with
no history of medication duringno history of medication during
pregnancy by the mother.pregnancy by the mother.
According to the mother, theAccording to the mother, the
movement of this baby was verymovement of this baby was very
less when she compared it withless when she compared it with
the previous pregnancies.the previous pregnancies.
7. Case presentationCase presentation
The baby was delivered in homeThe baby was delivered in home
by a LHV with immediate cryby a LHV with immediate cry
after birth.after birth.
Vaccination done according toVaccination done according to
EPI shedule.EPI shedule.
Developmental delay, the babyDevelopmental delay, the baby
is still not able to support hisis still not able to support his
head, social smile at 1.5head, social smile at 1.5
months.months.
9. Case presentationCase presentation
On examination.On examination.
1.1. Ill lookingIll looking
2.2. PalePale
3.3. TachypnoiecTachypnoiec
4.4. Lying in supine position with ivLying in supine position with iv
line in the head.line in the head.
10. Case presentationCase presentation
Crepitations in both sides ofCrepitations in both sides of
chest.chest.
Allert, conscious, no spontanousAllert, conscious, no spontanous
movements of the limbs, Headmovements of the limbs, Head
lag, on ventral suspension alllag, on ventral suspension all
the limbs hang down. Reflexesthe limbs hang down. Reflexes
absent.absent.
Rest of the examination normalRest of the examination normal
13. HypotoniaHypotonia
Hypotonia in infancy may beHypotonia in infancy may be
due to a paralytic or a nondue to a paralytic or a non
paralytic disorder.paralytic disorder.
Paralytic conditions causeParalytic conditions cause
hypotonia with weakness andhypotonia with weakness and
may affect the anterior hornmay affect the anterior horn
cells,nerve fibers neurocells,nerve fibers neuro
muscular junctions or muscles.muscular junctions or muscles.
14. HypotoniaHypotonia
Non paralytic condions causeNon paralytic condions cause
hypotonia (floppiness) withouthypotonia (floppiness) without
significant weakness.significant weakness.
The commenest cause of floppyThe commenest cause of floppy
baby is perinatal asphyxia.baby is perinatal asphyxia.
Most common paralytic cause ofMost common paralytic cause of
floppy infant is SMA.floppy infant is SMA.
15. CausesCauses
Paralytic causes;Paralytic causes;
1.1. Spinal cord disorders such asSpinal cord disorders such as
trauma, tumors etctrauma, tumors etc
2.2. Anterior horn cell disease suchAnterior horn cell disease such
as SMA & poliomyelitisas SMA & poliomyelitis
3.3. Neuromuscular disorders suchNeuromuscular disorders such
as neonatal or congenitalas neonatal or congenital
myasthenia gravis.myasthenia gravis.
16. CausesCauses
4- Peripheral neuropathy.4- Peripheral neuropathy.
5- Congenital myopathy ; it may5- Congenital myopathy ; it may
be structural (muscularbe structural (muscular
dystrophy) or metabolicdystrophy) or metabolic
(glycogen & lipid storage(glycogen & lipid storage
disorders)disorders)
19. Clinical featuresClinical features
Sever hypotoniaSever hypotonia
On ventral suspension, the fourOn ventral suspension, the four
limbs hang down and the infantlimbs hang down and the infant
is unable to hold head up.is unable to hold head up.
Head lagHead lag
Frog like positionFrog like position
20. InvestigationsInvestigations
Thyroid function testsThyroid function tests
Serum calciumSerum calcium
KaryotypingKaryotyping
Investigations for inborn errorsInvestigations for inborn errors
of metabolism.of metabolism.
CT or MRICT or MRI
NCSNCS
Muscle biopsy.Muscle biopsy.
22. Spinal muscular atrophySpinal muscular atrophy
SMAs are degenerativeSMAs are degenerative
diseases of motor neurons thatdiseases of motor neurons that
begin in fetal life and continue tobegin in fetal life and continue to
be progressive in infancy andbe progressive in infancy and
childhood.childhood.
23. Spinal muscular atrophySpinal muscular atrophy
SMA is classified in to theSMA is classified in to the
following types;following types;
1.1. SMA type 1 or werdnigSMA type 1 or werdnig
hoffmann disease.hoffmann disease.
2.2. SMA type 2 a late infantile andSMA type 2 a late infantile and
more slowly progressive form.more slowly progressive form.
3.3. SMA type 3 or kugelbergSMA type 3 or kugelberg
welander disease.welander disease.
24. Spinal muscular atrophySpinal muscular atrophy
4 A sever fetal form that is4 A sever fetal form that is
usually fatal in the perinatalusually fatal in the perinatal
period has been described asperiod has been described as
SMA type 0SMA type 0
25. Spinal muscular atrophySpinal muscular atrophy
The cause of SMA is aThe cause of SMA is a
pathological continuation of apathological continuation of a
process of programmed cellprocess of programmed cell
death or apoptosis.death or apoptosis.
Defect in SMN gene causesDefect in SMN gene causes
SMA.SMA.
26. Type 1Type 1
It is severe infantile form.It is severe infantile form.
Rapidly progressive with theRapidly progressive with the
majority dying of respiratorymajority dying of respiratory
failure with in 18 months.failure with in 18 months.
Presents in 1Presents in 1stst
few weeks.few weeks.
Fasciculations are seenFasciculations are seen
particularly in tongue.particularly in tongue.
Decreased fetal movements.Decreased fetal movements.
27. Type 1Type 1
Facial and bulbar muscles areFacial and bulbar muscles are
unaffected, so the infant has anunaffected, so the infant has an
alert look and can swallowalert look and can swallow
normally.normally.
28. Type 2Type 2
More chronic condition.More chronic condition.
Presents from 6 months to 18Presents from 6 months to 18
months.months.
Causes severe muscle wasting ,Causes severe muscle wasting ,
contractures and scoliosis.contractures and scoliosis.
Majority die by the age of 10Majority die by the age of 10
years,years,
29. Type 3Type 3
Presents above 18 months.Presents above 18 months.
Children develop normally butChildren develop normally but
then they develop limb girdlethen they develop limb girdle
weakness and gradual loss ofweakness and gradual loss of
ability to walk.ability to walk.
Progression is episodic andProgression is episodic and
usually there is survival intousually there is survival into
adult life.adult life.
30. TreatmentTreatment
No medical treatment isNo medical treatment is
available to delay theavailable to delay the
progression of the disease.progression of the disease.
Orthopedic care.Orthopedic care.
Mild physiotherapy.Mild physiotherapy.