Respiratory (Breathing) in CMT

[Guest guest]

(Part of CMT Awareness is making sure ALL persons with CMT have the correct

information and myths are dispelled. Therefore I am posting one of the first in

a series of articles from my files.)

Semin Respir Crit Care Med. 2002 Jun;23(3):191-200.

Overview of neuromuscular disorders affecting respiratory function.

Gilchrist JM. Brown Medical School, Providence, Rhode Island, USA.

A great many neuromuscular disorders affect respiratory function. This article

focuses on neuropathic and myopathic disorders that weaken the diaphragm and

respiratory muscles. This discussion gives a general overview and attempts to

update the reader on recent pathophysiological insights and developments in

therapy.

Among the disorders discussed, amyotrophic lateral sclerosis, poliomyelitis,

postpolio syndrome, Kennedy syndrome, and spinal muscular atrophy are motor

neuron diseases. Brachial plexitis and isolated unilateral or bilateral phrenic

neuropathies can also weaken the diaphragm significantly.

Peripheral neuropathies affecting respiration are primarily acute disorders such

as Guillain-Barre syndrome, porphyria, and critical illness neuropathy, but

chronic diseases such as chronic inflammatory demyelinating polyneuropathy

(CIDP) and Charcot-Marie-Tooth disease (CMT) can also cause respiratory

insufficiency.

Disorders of neuromuscular transmission such as Lambert-Eaton syndrome,

botulism, and myasthenia gravis often affect respiration. Many muscle diseases

also affect pulmonary function, including polymyositis/dermatomyositis, muscular

dystrophy, hereditary channel disorders, mitochondrial encephalomyopathies, acid

maltase deficiency, and congenital myopathy.