The document presents a case study of a 13-month-old female with respiratory distress and symptoms suggestive of spinal muscular atrophy (SMA), detailing her medical history, physical examination, and diagnostic challenges. It discusses the pathophysiology, classification, and management of SMA, as well as ethical considerations regarding ventilatory support for affected patients. The document emphasizes the importance of a multidisciplinary approach in providing care and the varied perspectives among clinicians about the quality of life for children with SMA.

2. Objectives
 Case presentation.
 Brief review of the topic.
 Review of literature – ethical issues
surrounding the case

3. Case presentation
• T.A. , 13/12 female
PC
 Respiratory distress + uncontrolled
sputum production

4. HPC
2 weeks ago: feeding problems / vomiting after feeding + increased sputum production.
-Sputum yellow in colour and with foul smell
- GP , Px Hyoscine patch.
Next day:
-Sputum production worse and continues.
2nd day (23/Jan/13):
-Baby has an episode “funny turn”: ???
-Perioral Cyanosis
-No jerking or limb movement
-Rolling back of eyes
-> 5 mins
-Difficulties in breathing

5. HPC
(23/Jan/13) Taken by ambulance to Eastbourne hospital: on
Eastbourne A&E:
-Difficulties in breathing
-Yellowish secretions
-Desaturating O2 50%
-No bradycardia

6. HPC
Any thoughts??? Any questions ??
..
No fever
No coryza symptoms
Immunisation up to date
No foreign travel / visitors
No family member with same symptoms

7. PMH
Pregnancy : normal , no drugs taken , antenatal ok
Perinatal: normal vaginal, no complications.
Delivery: no complications, 3.09 kg
Postnatal: no complications.
Infancy: tired and choked while feeding at 2/12. Breastfed until 6/12
Development:
 Not able to raise/hold head at 2/12
 Able to track for objects and smiled at 3/12
 Not able to crawl 6/12 or sit 6/12
 Not able to stand 9/12 or walk
 Good palmar grasp 6/12 but no transfer of objects 7/12

8. PMH
Immunizations: up to date.
Surgical Hx: none
Medical Hx:
 at 10 /12 , NG tube for feeding, reviewed at GOSH
 Admitted at Eastbourne Hospital with respiratory distress
 2 respiratory arrests
 Px: Augmentin IV, Oxygen , NS nebs , glycopyrrolate , PPV Bi PAP , IV fluids 100
mls/kg/day , Physiotherapy.
 Transfer to Royal Alexandra Hospital
Med: nil reg
Allergies: none known.

9. FH
-First child
-African descent
-No one in the family with similar symptoms.
-No Hx of consanguinity
-Father: HBP
-Mother: HBP
SH
-No problems at home reported.
-No recent travel
-No pets

10. S/R
-General: looking poorly for last 4 days, feeding ok and
drinking ok , despite vomiting.
-ENT: (-)
-GI: with NG tube since 10/12, vomiting after feeds 2 weeks
ago.
-RS: respiratory distress + 2 respiratory arrests while in
Eastbourne hospital
-CVS: Tachycardia while in EDH
-GUS: (-)
-NS: (-)
-MSS: floppy weak limbs, abnormal posture of lower limbs
-SKIN: (-)

11. O/E
-General: alert , cooing and laughing , temp (N) weak crying.
Abnormal posture, no facial asymmetries or dysmorphic
features.
-RS: stridor & crackles bilateral , subcostal recession, RR 45
-CVS: (-) no cyanosis, no clubbing, no SOB, no murmurs. HR 150
-ENT: NG tube in place.
-Eyes: (-)
-NS: (-)
-MSS: weakness and floppy lower limbs.
-NEURO: grasp reflex (+) , head lag (-) , ventral suspension (-)
, Moro (-)
-SKIN: (-)

12. Differentials
????
- Congenital Muscular dystrophy
- Myasthenia gravis
-Polio
-Carbohydrate metabolic disorders (GSD’s)
+
-Broncoaspiration pneumonia
-Viral upper respiratory infection

13. Diagnosis
Problems:
-SMA type 1
-Bronchiolitis
*Key points to reach diagnosis: progression
(chronic), associated symptoms and nature of symptoms.

14. Investigations
????
-Bloods: FBC, ABG’s, CRP, ESR, U&E’s, LFT
-CPK
-Dip stick Urine
-Throat swab
-CXR
-ECG
-EMG / Nerve conduction
-Genetic molecular testing

15. Management
- Fluids
- Antibiotics IV
- Assisted ventilation
- Physiotherapy
- Vital signs monitoring

16. Spinal Muscular Atrophy
General points
 Genetic disease
 Causes muscle weakness and progressive loss of
movement
 There are 4 types

17. Spinal Muscular Atrophy
Presentation
 Muscle weakness and wasting
 Preserved mental function and intelligence
 Lower motor neurone signs:
 Flaccid weakness (muscles soft and floppy)
 Hypotonia
 Reduced or absent tendon reflexes
 Normal or absent plantar reflexes
 Muscle fasciculation
 Muscle atrophy

18. Spinal Muscular Atrophy
Presentation
 Feeding well few weeks post-natal
 Early sign of a tiring infant that doesn't finish feeds
 Fasciculation of the tongue
 Symmetrical proximal weakness

19. Spinal Muscular Atrophy
Classification
International SMA consortium:
SMA TYPE 1 TYPE 2 TYPE 3
Age <6 months 6-18 months >18 months
Features -Severe form -Developmental delay -Mild
-Muscle weakness ++ -Some might crawl -Slowly progressive
-Hypotonia -Some might stand but -Proximal weakness
-Poor swallow reflexes then can’t -Difficulty with
-Floppy infant -Pseudohyperthrophy complex motor skills
-Respiratory failure of gastroctnemius -Gastrocnemius
-No affected brain muscle pseudohypertrophy
-No affected facial muscles -Respiratory failure -Swallowing problems
later in life
Morbidity/ 95% die < 18 months Can survive 20’s Normal lifespan
Mortality Median 7 moths

20. Spinal Muscular Atrophy
Epidemiology
 Is the second most common lethal autosomal recessive
disease in Caucasians1
 In the UK, carrier frequency case per 60-80,000 individuals2
 SMA type 2 most common
1Wirth B; An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal
recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228-37.
2 Tsao B & Stojic AS; Spinal muscular atrophy. emedicine, January 2009

21. Spinal Muscular Atrophy
Pathophysiology
 Autosomic recessive disorder - affected individuals
carry both.
 Mutation SMN gene on 5q13
 95% of infants type 1 SMA homozygously deleted
for exon 7 SMN 1 gene.

22. Spinal Muscular Atrophy
Pathophysiology
 Loss of this gene – loss of function in proteins for
RNA processing
 Toxic effect on lower motor neurones
 Anterior horn cells affected
 CN affected V, VII, IX and XII

23. Spinal Muscular Atrophy
Differentials
 Congenital myotonic dystrophy
 Duchenne muscular dystrophy
 Disorders of carbohydrate metabolism
 Myasthenia gravis
 Polio

24. Spinal Muscular Atrophy
Investigations
 Bloods:
-creatinine , normal in SMA type 1
 Genetic testing:
-prenatally or postnatally
-molecular genetic testing
 Electrophysiology:
-diminished nerve signals
-helps differentiate
-sensory nerve conduction normal
 Muscle biopsy:
-atrophy of muscle
-differentiate with other neuromuscular disorders

25. Spinal Muscular Atrophy
Management
 No treatment / cure
 Invasive ventilation for type 1
 Multidisciplinary approach for palliative and supportive care:
-Physiotherapy
-Respiratory medicine – ventilatory support
-Dietician – NG / gastrostomy
-Neurology
-Psychological support

26. Spinal Muscular Atrophy
Prevention
 In families with previous child w/SMA
 Genetic diagnosis
 IVF and pre-implantation
 Transferring non-affected embryos

27. Spinal Muscular Atrophy
Ethical issues
 Offer ventilatory support when no current cure for the disease
and considering quality of life?
 Any study that guides decision making in ventilatory support in
SMA type 1 ?

28. Spinal Muscular Atrophy
Ethical issues
Pediatrics. 2002 Aug;110(2 Pt 1):e24.
Respiratory support in spinal muscular atrophy type I: a survey of
physician
practices and attitudes.
Hardart MK, Burns JP, Truog RD. Department of Anesthesia and Critical Care, Children's Hospital, Harvard Medical
School, Boston, Massachusetts
 This study suggests a wide variation not only in what is recommended but also in
what is actually offered to families of these children.
 Study suggests that physician training and attitudes affect recommendations
regarding mechanical ventilation and ultimately family decision making.

29. Spinal Muscular Atrophy
Ethical issues
Paediatr Respir Rev. 2008 Mar;9(1):45-50;
The use of mechanical ventilation is appropriate in children
with genetically proven spinal muscular atrophy type 1: the motion for.
Bach JR. Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, University Hospital, Newark
 The purpose of this paper is to report prolongation of survival for SMA type 1 :
trachostomy vs non-invasive ventilation
 Tracheostomy might prolong survival over 20 yrs , but patients do not develop speech
and lose ability to breathe
 The majority of non-invasively managed SMA 1 patients develop ability to
communicate verbally and maintain some autonomous breathing ability

30. Spinal Muscular Atrophy
Ethical issues
Paediatr Respir Rev. 2008 Mar;9(1):45-50;
The use of mechanical ventilation is appropriate in children
with genetically proven spinal muscular atrophy type 1: the motion for.
Bach JR. Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, University Hospital, Newark
 Clinicians significantly underestimate the care providers' view of patient's quality of life.
As a result, they rarely offer non-invasive means to prolong life
 Non-invasive aids & tracheostomy can prolong survival for SMA 1 patients
 Should be left up to the family to decide which, if either, they would like to use

31. Spinal Muscular Atrophy
Ethical issues
IN CONCLUSION..
 Should affected patients be offered ventilatory support when no
current cure for the disease?
 Clinicians often underestimate carer’s views
 Anecdote & clinical judgement still guide doctor's decision making
in ventilatory support in SMA type 1

32. References
 Tsao B & Stojic AS; Spinal muscular atrophy. emedicine, January 2009
 Wirth B; An update of the mutation spectrum of the survival motor neuron gene (SMN1) in
autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228-37.
 Sarnat HB. Spinal muscular atrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF.
Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Elsevier; 2011:chap 604.2
 Rudolf M, Lee T, Levene M. Paediatrics and Child Health. Wiley Blackwell, 2001; 3rd ed.
 Lissauer T, Clayden G. Illustrated textbook of Paediatrics. UK: Mosby Elsevier, 2007; 3rd ed.
 Tasker R, McClure R, Acerini C. Oxford handbook of Paediatrics. Oxford: Oxford University
press, 2008.

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