2. Objectives
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• Identify clinical signs of impending
respiratory failure
• List 3lung function testsusedto
monitor patients with neuromuscular
disease for respiratory failure
• Define Non-Invasive Ventilation
14. Nemaline Myopathy
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• Genetics
– Autosomal recessive and dominant forms
– First discovered in 1956by Dr. Reyes
– 1/50,000 births
– 6different mutations identified
• Onset
– Infancy and early childhood
• Clinical presentation
– Face, neck and proximal muscle weakness
– Absent deep tendon reflexes (DTR), normal creatinine
kinase
16. Myotubular Myopathy
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• A form of centronuclear myopathy
• Genetics
– X-linked recessive
– Autosomal recessive and dominant
• Onset
– Birth for X-linked recessive
– Infancy and childhood for autosomal recessive
– Adult for autosomal dominant
• X-linked is most common form and most severe
• Clinical
– Hypotonia, respiratory pump failure, scaphocephaly
25. Congenital Fiber-Type Disproportion
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• Genetics
– 3different mutations, usually present first year of
life
• Clinical
– Hypotonia, weakness,delayedmotor development
first year of life
– 90%static or slow improvement over time
– Contractures at birth
– Scoliosis
– Dislocated hips
29. SMA
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• Genetics
– Autosomal recessive
– 1/6000births
– 1/40 carriers
– SMA1 and SMA2 identified to chromosome 5q
in 1995
– Variable based on specific genetic defect
30. SMA Types
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• Type 1
• Type 2
• Type 3
• Type 4
• Non-5q-SMA’s
31. Incidence SMA at Birth
Type 1
Type 2
Type 3
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60%
12%
27%
32. Prevalence SMA in Population
Type 1
Type 2
Type 3
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14%
35%
51%
33. SMA Type 1
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• Werdnig-Hoffman Disease
• Severe
• Age of onset 0-6months
• Never sits, flaccid paralysis, absent deep
tendon reflexes, tongue fasiculations
• Life expectancy < 2years
35. SMA Type 2
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• Intermediate severity
• Age of onset 7-18months
• Sits but never stands
• Life expectancy > 2 years
36. SMA Types 3 and 4
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• SMA 3
– Kugelberg-Welander Disease
– Mild severity
– Age of onset > 18months
– Function stands and walks
– Life expectancy - adult
• SMA 4(adult form – rare)
– Very mild severity
– Presents 2nd and 3rd decade
– Ambulatory
39. Anterior Horn Cell Disease
http://www.anatomyatlases.org/MicroscopicAnatomy/Images/Plate89.jpg and
www.anatomyatlases.org/MicroscopicAnatomy/Section06/Plate0689.shtml
Accessed both websites 9/20/10
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40. Classification:
Diseases of the Neuromuscular Junction
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• Congenital myasthenic syndromes
• Myasthenia gravis
– Acetylcholine junction
51. NIV and Airway Clearance
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• First used in the 1960’s
• First suggested for use in 1980’sfor NMD
• May reduceincidence of respiratory
infections
• Techniques to improve pulmonary toilet –
breath stacking, cough assist devices
• Possible benefit of high-frequency chest
walloscillation andintrapulmonary
percussive ventilation
52. Non-Invasive Ventilation
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• According to international consensus,
NIV isdefinedasanyform of
ventilatory support appliedwithout
endotrachealintubation andincludes
bipap, cpap and other modes
55. Conclusions
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• Marked improvementin managementof
respiratory complications of neuromuscular
disease in past 15years
• Serialmonitoring for progressiverespiratory
pump failure necessary to minimize pulmonary
complications
• Early implementation of therapiesto treat
hypoventilation and promote airway clearance
may augment quality and quantity of life
