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Lise Caget Bodor Gergely. Spinal muscular atrophy. SMA. JPEMS 2014. Introduction. A heterogenous group of disorders . Various degrees of severity Collective incidence of 1/10,0 00 . Most common genetic cause of infant death. Signs&Symptoms. Areflexia.

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spinal muscular atrophy
Lise Caget

Bodor Gergely

Spinal muscular atrophy

SMA

JPEMS 2014

introduction
Introduction
  • A heterogenous group of disorders.
  • Various degrees of severity
  • Collective incidence of 1/10,000.
  • Most common genetic cause of infant death.
signs symptoms
Signs&Symptoms
  • Areflexia.
  • Overall muscle weakness, poor muscle tone.
  • Weight lower than normal.
  • Difficulty achieving developmental milestones.
  • Weak respiratory muscles.
phisiopathology
Phisiopathology
  • The disease is characterized by degeneration of the anterior horn cells of the spinal cord (motorneurons).
physiopathology
Physiopathology
  • Denervation: the skeletal muscles loose their input from the central nervous system.
  • Denervated muscles undergo progressive atrophy. (Flaccid paralysis)
physiopathology1
Physiopathology
  • The cell death is caused by the absence of two proteines.
  • SMNP: Survival motor neuron protein.
  • NAIP: Neuronal apoptosis inhibitory protein. Deleted in 45% of individuals with Type 1 SMA, and in up to 20% of those with Type 2 and Type 3.
sma1 werdnig hoffman disease
SMA1 : Werdnig-Hoffmandisease
  • The most common and the most severe
  • Present at birth or in the first 6 months of life
  • Severe hypotonia and lack of spontaneous mouvement
  • Fetal mouvement reduced
  • Muscular weakness affects swallowing and respiratory functions
  • Death within the first two years of life.
sma 2
SMA 2
  • Less severe
  • Age of onset between 6 and 18 months
  • Muscle weakness and hypotonia
  • Kids can sit but they can't walk
  • Survival until early adult life
sma 3 kugelberg welander disease
SMA 3: Kugelberg-Welander disease
  • Present after 18 months
  • Patients are able to walk
  • Progressive muscular weakness leads to use a wheelchair by early adult life
  • Recurrent respiratory infections and scoliosis due to the weakness of spinal muscles
sma 4
SMA 4
  • Adult type : usually manifests after 30 years
  • Gradual weakening of muscles
  • Requiring the patient to use a wheelchair for mobility
  • Rare complications
  • Normal life expectancy
references
References
  • http://jadonshope.org/index.php?page=the-genetics-of-sma
  • http://withfriendship.com/user/levis/muscle-atrophy.php
  • http://www.fightsma.org/
  • Sian Ellard BSc PhD MRCPath, Peter D Turnpenny BSc MB ChB FRCP FRCPCH: Emery's Elements of Medical Genetics
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