Spinal Muscular Atrophy

Overview & Model of Care

Sami Hassan ​
Paediatric Registrar​
February 2024
 DEFINITION
• Neuromuscular disorders that present in the newborn
period with hypotonia and weakness can be caused by a
variety of conditions that affect the central nervous system
(brain or spinal cord), peripheral nervous system, or skeletal
muscle.
• Spinal muscular atrophy (SMA) is characterized by
degeneration of the anterior horn cells in the spinal cord and
motor nuclei in the lower brainstem, which results in
progressive muscle weakness and atrophy.
 GENETICS

• The inheritance pattern of chromosome 5q-related

SMA is autosomal recessive.
• The most common mutation of SMN1 is a deletion
of exon 7.
• The differences in SMN protein activity and
phenotypic expression appear to be related in part
to a modifying gene, called survival motor neuron
(SMN).
 EPIDEMIOLOGY

• SMA is a relatively rare disorder with an incidence of

approximately one in 10,000 live births, yet it is also the
leading genetic cause of death in infants worldwide.
• Based on the number of live births in Ireland, this
equates to between five and six new cases each year.
 Classification
• These diseases are classified as types 0 through 4,
depending upon the age of onset and clinical course.
• SMA type 0 (prenatal onset) and SMA type 1 (infantile
onset) are the most common and severe types.
• SMA type 2 and SMA type 3 have a later onset and a
less severe course.
• SMA type 4 (adult onset) is the least severe type.
 CLINICAL FEATURES
• The diagnosis of SMA should be suspected for any infant with
unexplained weakness or hypotonia.
• Weakness is usually symmetrical and more proximal than distal;
generally, it is greater in the legs than in the arms
• Additional clues suggesting the diagnosis in infants, children, or
adults include a history of motor difficulties, Impaired head control,
Weak cry and cough, progressive respiratory insufficiency,
Swallowing and feeding difficulty, sleep disturbances,
hyporeflexia or areflexia, tongue fasciculations, and signs of lower
motor neuron disease on examination.
• Sensitivity & and intellect are not affected.
 DIAGNOSIS
• Clinical : The diagnosis of SMA should be suspected for any
infant with unexplained weakness or hypotonia .
• Molecular genetic testing with targeted mutation analysis can
confirm the diagnosis of SMA by detection of homozygous
deletions of exons 7 of SMN1.
• Electromyography in SMA shows abnormal spontaneous activity
with fibrillations and positive sharp waves.
• Muscle biopsy reveals large groups of circular atrophic type 1
and 2 muscle fibers.
DIAGNOSIS
 Management
• Conservative treatment.
• Pharmacological treatment
 Conservative treatment
• A multidisciplinary approach is key for the management of individuals
with SMA
• In SMA, it is important to monitor the various aspects that are known to
be involved in disease progression and, when possible, provide
anticipatory care.
Speech-language Acute care
therapist clinicians

Consultant
Pulmonologist
neurologist

Psychologist Gastroenterologist
The MDT can
consist of: Neuromuscular
Physician
care specialist

Physiotherapist Nutritionist

Orthopaedic Occupational
consultant therapist
 GS – DOB 18/02/2023
Born at Term, SVD. Apgars 91 and 105
Birth weight 2.85 kg. No AN or Postnatal concerns.

At 1/12 of age developed URTI after which her mum felt
her motor developed slowed down.
At 2/12 GP referred with concerns of extremly low
tone, head lag, absent moro reflex and weak cry.

Stayed 4 days in hospital, septic work-up, triple abx,

MRI showed marginally delayed myelination.
Micro-array, Karyotyping and metabolic workup was sent.
Referral to Neurology and Metabolic team. April 2023

Family flew to Bulgaria, G fell ill with Pneumonia, tested

and confirmed the diagnosis of SMA type 1.

Arrived to Ireland, seen in TSH OPD, was admitted with the

plan to start medical treatment (Nusinersen) and linked to
an integrated MDT. July 2023
Initial Difficulties during her stay @TSH
1. Poor weight gain on NGT feeds.
2. Persistent Tachypnea with fleeting desats.
3. Central hypotonia with diminished reflexes.

 Started on HFNC then BiPAP with ongoing TOSCA studies.

 Pseudomonas growth on sputum culture x2 -> Eradication

 October 2023 Transferred back to SUH, Discharged 20th of December

on nocturnal BiPAP with home care package in place.
3 weeks later in January 2024, BIBA to SUH with concerns
of cough, desats 91% and nasal congestion.

NPS +ve Rhino-Adenovirus

CXR: RUL collapse and LRTI

Transferred to TSH General ward then to PICU where she

stayed 12 days, I+V for 1 day then gradually weaned to
her previous BiPAP settings and discharged home.
Discussion of Acute Care Plan

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