Transcript Illizarov

SPINAL MUSCULAR ATROPHY
General Data
 IDT
4
month-old
 Female
 Roman Catholic
 Quezon City
Chief Complaint
 Decreased
muscle tone
History of Present Illness
1 ½ months old
(+) decreased motor activity
(+) decreased muscle tone
2months old
(+) floppy
(+) gasping while feeding
(+) decreased frequency of bowel
movement
4 months old
(-) head control
Advised consult with a neurologist:
admission for work-up
ADMISSION
Past Medical History
May 2013 on the 4th day of life
Readmitted for:
Neonatal sepsis;
Breastfeeding
Cefotaxime & ampicillin; phototherapy
(admitted for 3 days)
Immunization History
BCG x 1 dose
Hepatitis B x 2 doses
DPT x 3 doses
OPV x 3 doses
HiB x 3 doses
Birth History
Born full term via Normal Cesarean
Section to a 24 year-old G1P1 (1001)
APGAR score (9,9) fetomaternal
complications
Unremarkable course at the NICU
Feeding History

Breastfed exclusively
Family History
(+) Diabetes Mellitus
(-) dystonia, paralysis etc…
(-) Asthma
(-) Hypertension
(-) Thyroid disorder
(-) Allergies
(-) Cancer
Personal and Social History

Lives with both parents in Quezon city
Review of Systems
(-) fever
(-) weight loss
(-) dyspnea, cough and colds
Physical Examination
Awake, alert , not in cardiorespiratory
distress
CR: 92 RR: 42 T: 36.5 C
 Weight: 6.3 kg
 Pink palpebral conjunctivae, anicteric
sclerae
 Non-hyperemic tonsils, no
tonsillopharyngeal congestion, no cervical
lymphadenopathy, left, clear breath
sounds, no retractions

Physical Examination
Regular cardiac rhythm, no murmur
 Soft abdomen, non-tender, normoactive
bowel sounds, no palpable masses, no
hepatosplenomegaly
 Full and equal pulses, no edema, no
cyanosis

Neurologic Examination
GCS 15, awake, alert
 Cranial nerves:
I- not assessed
II- pupils 3-4 mm ERTL, visual acuity grossly intact
III, IV,VI-EOM’s full and equal, (-) nystagmus
VII- no facial asymmetry
VIII- gross hearing intact
IX, X- (+)gag reflex
XI- good shoulder tone
XII- tongue midline
No nuchal rigidity
DTR on all extremities: negative
MMT 0/5 on all extremities

Salient features








4 month-old female
Decreased motor activity
Decreased muscle tone
No head control
No vomiting
No loose stools
Decreased feeding with intemittency
Neonatal sepsis and hyperbilirubinemia
Admitting Impression
t/c Floppy baby syndrome
Ilagay mo na lang na px was basically
worked up with the ff results….tapos
slide ng results. Explain also kung para san
yung mga tests na ginawa
 No problems related to sma was
encountered during the course of
admission.
 Results explained to the family.
Prognostication done.

Plan

Diagnostics:
◦ Laboratory exams: CBC , SGPT, Na , K , CPKMM
◦ Muscle ultrasound
◦ EMG-NCV
◦ Cranial ultrasound
9/22
Hgb
Hct
WBC
Neutro Lymp
Mono
Eos
Plt
122
37
13.90
21
03
06
615
70
9/22/13
Total Ca
2.94
L
CK-total
302
H
CK-MB
67
H
CK-MM
235
H
Na
141
K
6.3
Cranial Ultrasound (9/2313):unremarkable
study
Ultrasound of bilateral upper and lower
extremities (9/23/13): generalized muscle
atrophy
EMG-NCV: Motor denervation of limbs.
Axonal dysfunction. Findings compatible with
predominantly motor neuropathy or a lesion
involving the motor neuron (neuropathy)
1st Hospital Day
Subjective
Afebrile
Purely breastfed
Good suck cry and activity
With bowel movement and adequate urine output
Objective
BP 90/60 HR 128 bpm RR:46 cpm T: 36.2C
(+) awake, alert
(+) clear breath sounds
(+) weak grasp
(-) decreased muscle tone
Assessment
t/c Floppy baby syndrome
Plan
Work-up
Aspiration precautions
2nd
Hospital Day
Subjective
Afebrile
Purely breastfed, takes more time feeding
Good suck and cry
With urine output and bowel movement
Objective
BP 90/60 HR 140 bpm RR:42 cpm T: 36.6 C
Alert, clear breath sounds
decreased muscle tone on all extremities
Assessment
t/c Spinal Muscular Atrophy I
Plan
Referral to a geneticist
EMG-NCV: Motor
denervation of limbs.
Axonal dysfunction.
Findings compatible
with predominantly
motor neuropathy or a
lesion involving the
motor neuron
(neuropathy)
2nd
Hospital Day
Subjective
Afebrile
Purely breastfed
Good suck and cry
Adequate urine output, 1 pasty stool
Objective
HR 120 bpm RR:36 cpm T: 36 C
Alert, clear breath sounds
decreased muscle tone on all extremities
Assessment
t/c Spinal Muscular Atrophy I
Plan
For discharge;
For SMN gene testing (if negative for homozygous gene deletion,
suggest FISH for SPRPN gene on chrom 15q11-13 and muscle biopsy
for other neuromuscular conditions)
Paayos nung discussion. Keypoints lang. masyadong
maraming words 
SPINAL MUSCULAR ATROPHY
Autosomal recessive disorders
characterized by degeneration of the
anterior horn cells in the spinal cord and
motor nuclei in the lower brainstem
 different forms of 5q-SMA are caused by
biallelic deletions or mutations in the
survival motor neuron 1 (SMN1) gene on
chromosome 5q13.2

SPINAL MUSCULAR ATROPHY

SMA1: Werdnig-Hoffmann disease or Infantile spinal muscular
atrophy
◦ the most common and severe type
◦ typically presents in the neonatal period
◦ symptoms progress rapidly, and the majority of infants die before
one year of age from respiratory failure
SMA 2 (intermediate form): 3 and 15 months
 SMA 3 (mild form; Kugelberg-Welander disease): after 1 year

◦ Although the muscle weakness affected motor function, walking,
transfer from lying or sitting to the standing position, and stairclimbing were possible in some children. The outcome depends
primarily upon the severity of muscle weakness at presentation
rather than the age of onset, but earlier onset tends to correlate
with greater weakness

SMA 4 (Adult onset)of SMA (type 4) 2nd or 3rd decade of life
Manifestations







diffuse symmetric proximal muscle weakness LE >UE
Absent or markedly decreased DTR
SMA 1: severe symmetric flaccid paralysis and are unable to sit
unsupported.
an alert expression, furrowed brow, and normal eye movements
weak cry, poor suck and swallow reflexes, pooling of secretions,
aspiration, and fasciculations of the tongue (bulbar muscles).
All SMA types are associated with a restrictive, progressive
respiratory insufficiency
In SMA 1, respiratory muscle weakness leads to progressive
respiratory failure. The intercostal muscles typically are more
affected than the diaphragm, resulting in paradoxical breathing and
the development of a characteristic bell-shaped chest deformity.
Cardiac muscle is not affected.
Diagnosis







Molecular gene testing
Electromyography — abnormal spontaneous activity with fibrillations
and positive sharp waves
The mean duration and amplitude of motor unit action potentials are
increased, and many are polyphasic. Nerve conduction velocities are
normal or slightly decreased, and sensory nerve action potentials are
normal.
Serum creatine kinase concentration typically is normal or slightly elevated,
although in rare cases it can be moderately elevated.
Muscle biopsy — Muscle biopsy reveals large groups of circular atrophic
type 1 and 2 muscle fibers interspersed among fascicles of hypertrophied
type 1 fibers
The enlarged fibers have been reinnervated by the sprouting of surviving
nerves and are 3-4x larger than normal.
Histologic diagnosis may be more difficult to make in newborns because
only widespread atrophy of muscle fibers may be seen. A later repeat
biopsy is needed to demonstrate the mixture of hypertrophied and
atrophic fibers seen after reinnervation occurs.
Management
Treatment for SMA is supportive and directed at
providing nutrition and respiratory assistance as
needed, and treating or preventing complications
of weakness.
 Spinal bracing to delay the development of
progressive scoliosis that is caused by muscle
weakness
 Secretion mobilization and clearance techniques
involve manual or mechanical chest physiotherapy
with postural drainage, and manual cough
assistance and/or use of a
mechanical insufflation/exsufflation device
 Tracheostomy

Thank you