[MIM 160 500]

(Gowers disease, type 1 distal myopathy)

Very rare. Autosomal dominant transmission of a mutation of gene MYH7 (14q11), which codes for a myosin heavy chain in the type 1 fibers of the skeletal muscle and of the ventricles. Mutations of the same gene can lead to hyaline bodies myopathy or  type 1 cardiomyopathy.

This myopathy starts with weakness of the big toe and the extensor muscles of the foot. A progressive atrophy of the affected muscles follows. The onset of symptoms is between 4 and 20 years of age. There is also an early weakness of the flexor muscles of the neck. Evolution is slow and gradual with involvement of some abdominal and  facial muscles.  CPK levels are normal or slightly elevated

Anesthetic implications:

preoperative echocardiography; the orbicularis muscles of the eyelids should not be relied on to monitor curarization.

References : 

• North K, Wang C, Clarke N, Jungbluth H, Vainzof M, Dowling J et al. 
  Approach to the diagnosis of congenital myopathies. 
  Neuromuscul Disord 2014 ; 24 : 97-116.

Updated: February 2017