CASE OF SPINAL MUSCULAR ATROPHY, TOPIC DISCUSSION

1. Case Presentation
Dr. S. Ismat Bukhari
Dr. Fiza Hassan Shah

2. Age: 4 years
Sex: Female
Weight: (approx.) 15 kg
Address: DHA ph V
k/c of Spinal Muscular Atrophy

3. Presenting complaint
• Vomiting 1 episode
• Difficulty breathing
half hour
• Non-responsive

4. History of presenting illness
• Vomiting while asleep
• Breathing heavily
• Taken to South city hospital
– Neb with Atrovent and Oxygen inhalation given
– Referred for PICU care/ventilator support

5. Birth history
• Delivered at full term gestation
• SVD
• Admitted in NICU due to breathing difficulty

6. Developmental history
• Deaf since birth
• Over all delayed milestones

7. • Nutritional history
started on formula feed initially.
currently on liquid / semi-solid diet
• Immunization history
up to date

8. Past history
• Diagnosed to have Spinal Muscular Atrophy
(SMA) by EMG at 9 months of age
• Multiple hospital admission at liaquat
national hospital with recurrent chest
infections

9. Family history
• Parents had a consanguineous marriage
• 2 siblings alive, patient is third in birth order
of four children.
• 1 sibling died at the age of 9 months
(SMA with aspiration pneumonia)

10. • Drug history
no known history of drug allergy

11. • Personal history
Appetite, sleep, micturation and bowel habits
normal
• Social history
live in an owned house
father is the sole earning member

12. Diagnosis
• Aspiration pneumonia

13. Examination
• Sick child
• Pale and toxic looking
• Moderate to severely dehydrated
• Frothing from mouth
• Respiratory distress
• Lower limbs had atrophied muscles
• GCS: 5/15
H/R 90/min
R/R 54/min
Temperature 99˚F
SaO2 76% at room air
Blood Pressure 120/80 mmHg (>95th percentile)

14. Respiratory System
bilateral bronchospasm
Decreased air entry on right (as compared to
the left)
wheeze and coarse crepts
Cardiovascular system
S1 + S2

15. Abdomen
Soft
No visceromegaly
CNS
GCS 5/15 (E2, V1, M2)
Pupils reactive to light
Plantars mute

16. Laboratory investigations
INVESTIGATION RESULTS
Hb 8.4
PCV 29
TLC 22.6
Platelets 237
RBS 205
Urea 49
Creatinine 0.60
Sodium 142
Potassium 5.9
Chloride 114
Bicarbonate 9.5
PT 15.3
INR 1.0
APTT 30.0

17. INVESTIGATION RESULT
pH 7.231
PaCO2 13.9
PaO2 144.6
Hct 28.6%
SaO2 98.4%
BE -19.0
HCO3 9.5

18. URINE D/R
Yellow, turbid
pH - 5.0
Sp. G – 1.020
Protein – 150 mg/dl (+2)
Glucose – 50 mg/dl (+1)
Hb – +2
RBCs – 01 /mpf
Leucocyte – 2/mpf
Epithelial Cells - few
Hyaline casts - occasional

19. • Catheterization was done and 50 ml of urine
was collected in bag immediately
( u output 2.5 ml /hr in 4 hours)
• Fluid resuscitation done

20. Intial treatment
• Inj. Meroneum
• Inj. Vancomycin
• Inj. Magnesium sulphate
• Inj. Bicarbonate
• Inj. Solumedrol

21. • Patient intubated and put on CMV mode
Rate 25/min
PEEP 5
Vt 120
FiO2 75%
• Transfused PCV and FFP

22. • Patient started dropping heart rate and was
not maintaining Oxygen saturation
• Dopamine infusion started
• Inj. Adrenaline given
• CPR done for 10 minutes

23. Blood C/S
• Coagulase negative
staphylococci
• Sensitive to Amikacin,
Clindamycin, Co-
Trimaxazole, Linezolid,
Oflox/Cipro, Teicoplanin,
and Vancomycin.
Urine C/S
• Leucocytes: 04 /HPF
• Culture showed no growth

26. • Spinal Muscular Atrophy (SMA) is a genetic
neuromuscular disease characterized by muscle
atrophy and weakness.
• The disease generally manifests early in life and is
the leading genetic cause of death in infants and
toddlers.

27. • SMA is caused by defects in the Survival Motor
Neuron 1 (SMN1) gene that encodes the SMN
protein.
• The SMN protein is critical to the health and survival
of the nerve cells in the spinal cord responsible for
muscle contraction (motor neurons).

28. • One in 6,000 to one in 10,000 children are born with the
disease.
• SMA is an autosomal recessive genetic disease, meaning
that a person must have two copies of a defective gene to
have the disease.
• SMA carriers do not exhibit SMA symptoms, but do carry a
defective copy of the SMN1 gene.
• If both parents are carriers of the SMA gene, then each of
their children has a 1 in 4 chance of having the disease.
SMA has multiple forms which vary in severity.

29. • The most severe form (Type I) manifests before 6
months of age and generally results in death before
age two.
• Patients with milder forms of SMA may not have
symptoms of muscle weakness until much later in
childhood or even as adults.
• Mental abilities are unaffected by SMA.

30. There are several different types of spinal muscular
atrophy (SMA) –
the disease is classified according to the age at which
symptoms develop and how severe they are.
• In general, SMA affects a person’s physical abilities, such as
moving, walking and breathing, but does not affect their
mental development.
• It causes the muscles throughout the body to become
atrophied, with the muscles closest to the centre of the body,
such as the shoulders, buttocks and back (proximal muscles),
usually affected first.

31. Classification of spinal muscular atrophy
SMA is classified according to the age at which symptoms develop
and how severe they are:
• Type I – the most severe type, develops in less than six months old
• Type II – less severe than type I, symptoms usually appear around
7-18 months old
• Type III – the mildest type affecting children, symptoms usually
appear after 18 months of age
• Type IV – affects adults

32. Type I SMA
(previously known as Werdnig-Hoffmann disease)
• Type I is believed to be the most common form of SMA.
• It causes severe muscle weakness, which can result in problems
moving, eating, breathing and swallowing.
• These symptoms are usually apparent at birth or during the first
few months of life.
• The babies have their limbs limp and floppy. They are usually
unable to raise their head or sit without support.
• Breathing problems can be caused by weakness in the baby’s chest
muscles, and difficulty swallowing can be made worse by weakness
of the muscles in the tongue and throat.
• Unfortunately, due to the high risk of serious respiratory problems,
most children with Type I SMA die before they reach one year old.

33. Type II SMA
• Type II SMA usually develops when an infant is 7–18 months old.
• The symptoms are less severe than Type I, but usually get worse over time.
• Infants with Type II SMA are usually able to sit, but not stand or walk unaided.
• They may also have breathing problems, weakness in their arms and legs,
twitching of the muscles in the arms, legs or tongue
• In some cases, deformities of the hands, feet, chest, and joints develop as the
muscles atrophy.
• As they grow, many children with Type II SMA develop scoliosis.
• A child with Type II SMA has weak respiratory muscles which can make it difficult
for them to cough effectively. This can make them more vulnerable to respiratory
infections.
• Although Type II SMA may shorten life expectancy, improvements in care
standards mean that the majority of people can live long, fulfilling and productive
lives.

34. Type III SMA
(previously known as Kugelberg-Welander disease)
• Type III is the mildest form of childhood SMA.
• Symptoms of muscle weakness and floppiness usually appear after 18
months of age, but this is very variable and sometimes the symptoms may
not appear until late childhood or early adulthood.
• Most children with Type III SMA are able to stand unaided and walk,
although many find walking or getting up from a sitting position difficult.
• They may also have balance problems, an abnormal way of walking,
difficulty running or climbing steps, a slight tremor of their fingers.
• The muscles of children with Type III SMA will become weaker, resulting in
some children losing the ability to walk when they get older.
• Breathing and swallowing difficulties are very rare and the condition
doesn't usually affect life expectancy.

35. Type IV (Adult-onset)
• Type IV SMA is a less common form that begins in adulthood.
• The symptoms are usually mild to moderate.
• Symptoms include muscle weakness in the hands and feet,
difficulty walking, muscle tremor and twitching.
• Type IV SMA doesn't affect life expectancy.

36. Adult-onset SMA
• SMA that develops in adults (type IV) is linked to the SMN1
gene in some cases, although not all cases are thought to
be inherited.
• In cases where adult SMA is passed on, the way it's
inherited can be different from the types I, II and III.
• For example, it's sometimes possible for someone to
develop adult-onset SMA if only one parent has the
defective gene.
• In Kennedy's syndrome, the condition is passed on by the
mother and only affects male children, although female
children can become carriers.

37. Rarer types
Spinal muscular atrophy with respiratory distress
• A type of SMA called spinal muscular atrophy with respiratory distress
(SMARD) is inherited in the same way as types I, II and III, but it's not
related to a problem with the SMN1 gene.
• Instead, a problem with a gene called IGHMBP2 is responsible for the
condition.
• Spinal muscular atrophy with respiratory distress (SMARD) is a very rare
form of SMA that's usually diagnosed before a baby is six months old.
• Infants with SMARD have very weak breathing muscles, resulting in severe
breathing difficulties that are often fatal.
• Like Type I SMA, most children with SMARD die before their first birthday.

38. Kennedy's syndrome /
Spinobulbar muscular atrophy (SBMA)
• A rare type of adult SMA.
• SBMA only affects men.
• It usually develops very gradually between the ages of 20 and 40, although
rarely, it can affect teenage boys or sometimes only become obvious after
40.
• The initial symptoms of Kennedy’s syndrome may include tremor of the
hands, muscle cramps on exertion, muscle twitches and weakness of the
muscles of the limbs.
• As the condition progresses, it may cause other symptoms, including
weakness of the facial and tongue muscles, which may cause dysphagia
and slurred speech and recurring pneumonia.
• Kennedy's syndrome doesn't usually affect life expectancy.

39. TESTING FOR SMA
• When there is a family history of the
condition, genetic testing may be
recommended.
• Chorionic villus sampling (CVS)
• Amniocentesis.

40. Diagnosing SMA after birth
• If SMA is not diagnosed before birth and a child has typical
symptoms of SMA, there are a number of tests that can check for
the condition.
• Most cases can be confirmed with genetic testing.
• A physical examination will also be carried out to look for signs,
such as:
– muscle weakness and wastage
– reduced or absent tendon reflexes
– twitching of individual muscle fibres
• If a diagnosis is not entirely certain, several other tests – such as an
electromyography test or a muscle biopsy – may be carried out.

41. Electromyography
• Due to the availability of genetic tests, EMG is
now very rarely carried out in typical cases of
SMA.

42. Muscle biopsy
• During a muscle biopsy, a small sample of muscle tissue is
taken for analysis.
• The sample, which is usually taken from the thigh, is
examined under a microscope.
• However, with the wide availability of genetic testing, muscle
biopsies are rarely done nowadays to diagnose SMA.

43. Treatment and support
• There is no cure for SMA, but treatment and support
can help to manage the condition.
• Depending on its severity, treatment may involve:
– exercises and equipment to improve mobility and
breathing
– feeding tubes and nutrition advice
– bracing or surgery to treat scoliosis

44. Exercise
• For someone with SMA, exercise is very important for
maintaining circulation, preventing joint stiffness and
improving flexibility and range of movement.
• The amount of exercise that someone with SMA is able
to do will largely depend on the severity of their
condition, but most healthcare professionals
recommend people with SMA should do as much
exercise as they are comfortable with.
• The exercises may incorporate elements of
hydrotherapy and games for young children.

45. Assistive equipment
• If someone with SMA has difficulty moving,
an occupational therapist will be able to offer advice
and support.
• For example, they can provide advice about
equipment, such as walking frames and motorized
wheelchairs.

46. Nutrition and feeding
• It's important for people with SMA, especially children, to get
appropriate nutrition to avoid problems like dehydration and
ensure healthy development.
• However, this can be difficult because some people with SMA
have problems feeding and swallowing.
• However, if feeding and swallowing problems are severe, a
feeding tube may be required.

47. Breathing support
• Many people with SMA experience potentially fatal breathing
problems caused by a weakening of the respiratory muscles, but
there are a number of treatments which can help reduce this risk.
• Breathing exercises are sometimes used to help reduce the risk of
problems developing from respiratory tract infections and improve
difficulties coughing.
• A special suction machine may also be used to help with any
difficulties clearing the throat.
• For people with SMA – as well as those in frequent contact with
someone who has SMA – immunizations against respiratory tract
infections, such as flu and pneumonia, are sometimes
recommended due to the risk of serious complications.

48. Spine problems
• For children with SMA, the risk of developing scoliosis is high due to
the progressive weakness in the muscles that support the spine.
There are various treatments for scoliosis in children, including back
braces and surgery.
• A specially made back brace can be used to help support the back
and encourage the spine to grow correctly. However, this cannot
correct the curve.
• Spinal fusion is the only way to correct the problem permanently.
This is where the spine is straightened using metal hooks and rods,
before being fused into place using bone grafts.