SPINAL MUSCULAR ATROPY

BY DSOUZA JULITA DSOUZA

DEFINITION
 SMA IS A GENETIC INHERITED NEUROMUSCULAR DISORDER
 NERVE CELL WHICH IS VITAL FUNCTION FOR MUSCLES STOP
WORKING
 LEADS TO MUSCLE WEAKNESS AND WASTING
 MORE THAN 10,000 CASES IN AUSTRALIA
 COMMON IN AGE 5 AND YOUNGER

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TYPES
 SMA 1 (SEVERE)
 KNOWN AS WERDING HOFFMAN DISEASE
 SEEN DURING BIRTH(INFANTS) TO SIX MONTHS
 DIFFICULTY IN SWALLOWING & SUCKING
 CANNOT HOLD UP THEIR HEAD AND SIT
 RESPIRATORY INFECTION & PNEUMOTHORAX

 SMA 2 (INTERMEDIATE)
 KNOWN AS DUBOWITZ DISESAE
 SEEN IN CHILD FROM 6 MONTHS TO 18 MONTHS
 AFFECTS THE LOWER LIMBS
 CAN SIT BUT CANNOT WALK
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 SMA 3 (MILD)
 KUGELBERT-WELANDER OR JUVENILE-ONSET SMA
 SEEN IN CHILDREN IN FIRST 18 MONTHS
 MILD MUSCLE WEAKNESS
 RESPIRATORY DISTRESS
 DIFFICULTY WALKING

 SMA 4 (ADULT)
 DOESNOT TYPICALLY APPEAR UNTILL MID 30S
 PROGRESSING MUSCLE WEAKNESS
 CAN WALK AND LIVE FULL LIVES

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CAUSES OF SMA
 DUE TO MISSING PART OF SMN1(SPINAL MOTOR NEURON) GENE
DURING MUTATION
 PEOPLE WITH SMA DONOT MAKE ENOUGH SMN PROTEIN
THEREFORE MOTOR NEURON SHRINK AND DIE
 TEREFORE LEADS TO MUSCLE WEAKNESS WHICH AFFECTS HEAD
NECK AND ARMS

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INVESTIGATION

 BLOOD TEST
 GENETIC TEST
 NERVE CONDUCTION TEST
 MUSCLE BIOPSY
 AMNIOCENTESIS
 CHORIONIC VILLUS SAMPLING(CVS)

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TREATMENT

 DISEASE MODIFYING THERAPY

 GENE REPLACEMENT THERAPY
 OCCUPATIONAL THERAPY
 PHYSIOTHERAPY

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COMPLICATION

 BONE FRACTURE
 HIP DISLOCATION
 SCOLIOSIS
 MALNUTRITION
 DEHYDRATION
 PNEUMONIA
 VENTILATION

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PREVENTION

 EARLY DETECTION DURING PREGNANY

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REFERENCE
 Shapiro.L.(2023), Symptoms of spinal muscular Atrophy. In Silva(Ed), SMA News
today(pp 1-4). Spinal muscular atrophy (SMA) symptoms | SMA News Today
 Cleveland Clinical Medical professional(2021), Spinal Muscular Atrophy.
Spinal Muscular Atrophy (SMA): Types, Symptoms & Treatment (clevelandclinic.org)
 Dr. Thomas.L.(2023), What are the different types of spinal muscular atrophy. In
Handerson.E(Ed), News medical life sciences(pp 1).
What are the Different Types of Spinal Muscular Atrophy? (news-medical.net)
 Neuromuscular Academy(n.d), Spinal Muscular Atrophy : Paediatric care Pathway.
Spinal Muscular Atrophy: Paediatric Care Pathway | Neurology Academy

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