Applicable Conditions
Conditions with Breathing Muscle Weakness that can benefit from
Noninvasive Ventilatory Support and Mechanical Insufflation-Exsufflation

People with the following conditions are conventionally treated with low-span bi-level positive airway pressure (PAP) and uncomfortable airway suctioning, which are inadequate to fully support the respiratory muscles. As their condition/symptoms worsen, they require invasive airway tubes (e.g. tracheostomy tubes). However, if you can understand and cooperate with basic instruction, and you have breathing or coughing muscle weakness (i.e. if you are too weak to breathe or cough effectively), then you do not need a tracheostomy tube. In fact, even people intubated for acute respiratory failure fall under this criteria.

Diagnostic categories:

Outcomes for amyotrophic lateral sclerosis (ALS)

Outcomes for chronic lung disease and debilitated elderly in critical care

Outcomes for Duchenne muscular dystrophy (DMD)

Outcomes for type 1 neuromuscular disorders (e.g. SMA type 1)

Outcomes for other neuromuscular disorders (e.g. SMA types 2 and 3)

Outcomes for obesity hypoventilation syndrome

Outcomes for post-poliomyelitis syndrome

Outcomes for spinal cord injury/myelopathies

Myopathies (Muscle Disorders)

Muscular dystrophies:

Duchenne

Becker

Limb-girdle

Emery-Dreifuss

Facioscapulohumeral

Oculopharyngeal

Myotonic

Distal

Congenital

Fukuyama

Integrin-deficient

Merosin-deficient

Ullrich

Walker-Warburg Syndrome

 

Other myopathies:

Steroid myopathy

Carnitine-deficient

Myotubular

Arthrogryposis

Bethlem

Central core disease

Centronuclear/Titinopathy

Myotonia congenital

Paramyotonia congenita

Mucopolysaccharidoses

Acid maltase deficiency (Pompe disease)

Morquio

Cori disease (debrancher enzyme deficiency)

Finnish (tibial) distal myopathy

Inclusion-body myositis

ZASP-related myofibrillar

Nemaline rod

Andersen-Tawil syndrome

Mitochondrial myopathies

Pearson’s

Kearns-Sayre syndrome

Leigh syndrome

Progressive external ophthalmoplegia

MERRF

Fiber-type disproportion

 

Metabolic myopathies with respiratory dysfunction:

Lactate dehydrogenase deficiency

McArdle disease (phosphorylase mutase deficiency)

Myoadenylate deaminase deficiency

Periodic paralysis

Phosphofructokinase deficiency

Phosphoglycerate kinase deficiency

 

Acquired myopathies of systemic disease:

Carcinomatous myopathy

Cachexia/anorexia nervosa

Medication associated (e.g. glucocorticoid)

Inflammatory myopathies

Polymyositis

Hypothyroid

Hyperthyroid

 

Diseases of the myoneural junction:

Myasthenia gravis

Congenital myasthenic syndromes

Lambert-Eaton myasthenic syndrome

 

Motor Neuron, Spinal Cord, and Peripheral Nerve Disorders

 

Motor neuron diseases:

Amyotrophic lateral sclerosis (ALS)

Spinal muscular atrophy (SMA)

Kennedy disease

Poliomyelitis

 

Spinal cord injury (SCI)

Myelopathies of rheumatoid, infectious, spondylitic, vascular, traumatic, or idiopathic origin

Tetraplegia associated with toxic metals, pancuronium bromide, or botulism

 

Neuropathies:

Hereditary sensory motor neuropathies

Familial hypertrophic interstitial polyneuropathy

Charcot-Marie-Tooth disease

Chronic inflammatory demyelinating polyneuropathy

Guillain-Barré syndrome

Phrenic neuropathies associated with cardiac hypothermia, surgical, or other trauma (including radiation, phrenic electrostimulation, familial, paraneoplastic or infectious), associated with lupus erythematosus or other connective tissue diseases, or idiopathic

 

Central Nervous System Diseases

 

Multiple sclerosis (MS)

Parkinson’s disease

Disorders of supraspinal tone

Friedreich's ataxia

Cerebral palsy

Static encephalopathies including those associated with Arnold Chiari malformation, syringomyelia, myelomeningocele, and encephalitis

 

Other Medical Conditions

 

Intensive care deconditioning and neuromyopathy (i.e. healthy elderly people weakened by long stays in intensive care)

Chronic obstructive pulmonary disease (COPD) or other lung disease with severe respiratory muscle dysfunction

Obesity hypoventilation syndrome

Central alveolar hypoventilation including Ondine's curse

Kyphoscoliosis

Anyone with weak muscles at risk for respiratory complications of surgery