Spinal muscular atrophy
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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

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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


Thank you

THANK YOU!


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