Dystrophy:muscular, facio-scapulo-humeral

(Facio-scapulo-humeral dystrophy, Landouzy-Dejerine myopathy)

Prevalence: 1/20.000. It is the third most common  muscle disease. Histology : picture of muscular dystrophy : muscle fibres of different sizes, with zones of necrosis replaced by fibrosis and fat). From the genetic point of view, there are:

The importance of muscular involvement is highly variable and it is estimated that approximately 30 % of patients genetically affected have no or only very few clinical signs (mosaicism?).

Two main clinical presentations are described:

-        congenital form or infantile (the face is affected before the age of 5 years, the shoulders and the pelvis before the age of 10 years): the muscular involvement is symmetrical with facial weakness and eversion of the lips (like the mouth of a tapir); hyperlordosis; development of scoliosis

-        usual form: the muscle involvement is asymmetric ; onset during  the adolescence, with fixed facies, non-occlusion of the eyelids during sleep (risk of keratitis and conjunctivitis), chewing difficulties; the involvement of the shoulder girdle (but the deltoid muscle is often spared) is catastrophic: the shoulder blades are protruding especially during abduction of the arms; the lower limbs are affected later (difficult walking, steppage); protruding abdomen because of weakness of the parietal muscles; hyperlordosis.

A third form without facial involvement [MIM 600 416] has been described in some families: this could be a variant.

In general, there is no impairment of respiratory, bulbar or extraocular muscles.

Damage to the retina (Coats disease: retinopathy with retinal exudates) and/or to the cochlea (sensorineural deafness) is common. A few cases of supraventricular paroxysmal tachycardia  and hypertrophic cardiomyopathy have been reported.

Evolution is gradual and very slow: about 20 % of patients become wheelchair-bound  and less than 5 % end up needing ventilatory assistance during sleep.


Anesthetic implications:

-        preoperative: ECG: in case of anomaly, ask for an echocardiogram

-        monitoring: to monitor the curarization, use preferably non affected muscles and check the TOF before administering any muscle relaxant; check if the patient can perform the head lift manoeuvre

-        muscle relaxants : avoid succinylcholine as for any myopathy; it seems that the response to atracurium and vecuronium is normal but of shorter duration. Sugammadex has been successfully used to antagonize rocuronium

-        halogenated agents: there is no risk of malignant hyperthermia; histologically it is a muscular  dystrophy similar  to  Duchennes disease but not a dystrophinopathy: exposure to halogenated agents could potentially cause anesthesia-induced rhabdomyolysis but a few cases of uneventful use of enflurane and sevoflurane have been reported

-        regional anesthesia: hyperlordosis can make the realisation of a neuraxial block difficult; for peripheral blocks, dystrophy and muscle atrophy can change the echogenicity of the muscles.


References : 

-    Gurnaney H, Brown A, Litman RS. 
Malignant hyperthermia and muscular dystrophies. 
Anesth Analg 2009; 19:1043-8.

-        Dresner DL, Ali HH. 
Anaesthetic management of a patient with facioscapulohumeral muscular dystrophy. 
Br J Anaesth 1989; 62: 331-4.


Updated: July 2019