SPINAL MUSCULAR ATROPHY

Rahmi Lestari
Divisi Neuropediatri
Bagian Ilmu kesehatan Anak
FK Unand/ RS M Djamil Padang
INTRODUCTION

Spinal muscular atrophy (SMA)

the most common genetically inherited
neurodegenerative disease resulting in infant
mortality.

caused by genetic deletion or mutation in the

survival of motor neuron 1 (SMN1) gene

results in reduced levels of the survival of motor

neuron (SMN) protein.
INTRODUCTION

SMN protein deficiency

preferentially affects motor neurons,

leading to their degeneration

and subsequent atrophy of limb and trunk

muscles

progressing to death in severe forms of the

disease.
CASE ILLUSTRATION

Patient:
ODS

Baby boy

4 months old

Medical Record : 4229719

Chief complaint
Poor motor development
history
Looked weak and less active compared to other
babies
Could not raise head and chest when lying on
stomach
Could not lay on his side yet
Limited movement of extremity
Could produce vocal sound (cooing)
No history of recurrent aspiration, or upper respiratory
infection
Poor feeding, no history of vomit
Fully breastfed
... history

No other significant symptom

Born fully aterm with normal birth weight

No history of complicated pregnancy or delivery

No history of consanguinity in the family

No history of weakness or related symptoms in the

family
General physical examination
Fully alert
Respiratory rate: 37x/ minute
Pulse: 108x/ minute
Temperature: 36,8 C
Body weight: 5,7 kg ;
Body length: 64cm
No anemia, no icteric, no cyanosis
Thorax: bell spahed apperarance
No respiratory distress
Abdomen: no organomegaly
No dysmorphic appearance
No abnormality in other system
f
f
Significant neurology finding
Normocephal
Normal visual contact
No abnormality in pupil diameter, gaze, or response to light
Normal response to auditoric stimuli
Cranial nerves were normal
Hypotonia
Fasiculation of the tongue
Tetraparese flaccid
more prominent in lower limb
Proximal was worse than distal
diminished reflex
Sensory was normal
No patological reflex or clonus
Laboratory Finding
Creatine kinase: 85U/L

ENMG
Decrease motor NCV with low amplitudo
Normal sensory NCV
EMG:
Spontaneous activity with fibrilation and PSW at rest
Decreased recruitment, increased poliphasic potential
with high amplitude on activation
Suitable for motor neuron disease

DNA analysis
Homozigote deletion of exon 7 in SMN1 gene
Diagnosis

Spinal Muscular Atrophy type I

malnutrition
management

Physiotherapy

Nutrition management

counselling
What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a devastating neuromuscular
disorder characterized by loss of spinal cord motor neurons,
muscle atrophy and infantile death or severe disability.

It is caused by severe reduction of the ubiquitously expressed

survival motor neuron (SMN) protein, owing to loss of the SMN1
gene.

This would be completely incompatible with survival without the

presence of a quasi-identical duplicated gene, SMN2, specific to
humans.
Genetic...

Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, et al. Emerging
therapies and challenges in spinal muscular atrophy. ann Neurol 2017;81:355-368
t

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Patophysiology...

Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, et al. Emerging therapies and
challenges in spinal muscular atrophy. ann Neurol 2017;81:355-368
Classification...

Pechmann A, Kirschner J. Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy.
Neuropediatrics. 2017 Aug;48(4):273-281
 Current management

Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, et al. Emerging therapies and challenges in spinal muscular atrophy. ann Neurol 2017;81:355-368
Symptom management and
supportive care
◼ Historically, treatment for SMA focused on managing
symptoms.
◼ Some of these options include:
• Medication: Medications may help improve breathing or
muscle function. For example, doctors may give albuterol,
valproic acid, or phenylbutyrate.
• Rehabilitative therapies: Occupational and physical
therapy may help a person retain or regain some functioning,
especially in less severe forms of SMA.
• Surgery: A person may need surgery to correct SMA
complications such as scoliosis. Some people with SMA need a
surgical gastrostomy to allow them to eat through a tube.
• Breathing support: Some people with SMA may need
breathing support such as a ventilator or bilevel positive
airway pressure machine. Others may need a tracheostomy,
which involves doctors inserting a tube in a person’s trachea
to help them breathe.
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Advance in treatment …

• Gene therapy and nusinersen are the

most expensive treatments.
Reports have stated that nusinersen can cost
approximately $700,000, while the cost for
the gene therapy drug onasemnogene
abeparvovec is $2.12 million.

Risdiplam is also very expensive — annual

costs typically range from $93,000 to more
than $350,000.
Thank
you