Genetically transmitted neuromuscular disease
characterized by weakness of facial, shoulder, and/or upper arm muscles.
Duchenne Landouzy Disease; Facio-Scapulo-Humeral Muscular
Atrophy (or Dystrophy).
5:1,000,000 live births, 1/10 and 1/50
the incidence of limb-girdle and Duchenne types, respectively.
Autosomal dominant; gene located on 4q35. Up
to 30% of cases have no apparent family history of the disease and
probably are related to new mutations.
Progressive muscle degeneration occurs. Histologic
features are variations in fiber size, areas of necrosis, and deposition of
fat and connective tissue.
Diagnosis is made based on the clinical picture,
elevated creatine kinase, abnormalities on muscle biopsy, and
electromyography. Electrophoretic measurement of restriction enzyme can be useful. DNA
fragments associated with the responsible gene can confirm the diagnosis in
presymptomatic and prenatal patients. Fragments shorter than 35 kb are
associated with the disease, and the shorter the fragments, the earlier the
onset and more severe the disease.
The onset is in adolescence. The course is slower and
more benign than the other dystrophies. Features involve the eyes and ears (sensorineural
hearing loss, eyelid drooping, retinal detachments, and telangiectasia),
cardiac system (atrial tachycardia, cor pulmonale), thoracic system (restrictive lung disease, winged
scapula), and neuromuscular system (facial, scapular, and humeral muscular dystrophy, abdominal
wall weakness; inability to raise the arms is an early feature and facial
weakness is characteristic). The lower limbs are affected later.
Although respiratory and cardiac
complications are lesser issues than observed with Duchenne muscular dystrophy, a
detailed evaluation of these systems, including ECG and lung function tests,
is indicated. Assess baseline serum potassium and creatinine kinase and
consider arterial blood gases.
Little has been published regarding
anesthesia in this group, although the general principles pertaining to the
other muscular dystrophies apply (see Duchenne Muscular Dystrophy).
Depolarizing muscle relaxants are
contraindicated for all patients with muscular dystrophy because of the risk
of acute hyperkalemia and rhabdomyolysis and its sequelae. In a case report,
a patient had normal sensitivity to, but faster recovery from, atracurium
than that observed in the general population. Despite this unexpected
finding, it is prudent to use nondepolarizing agents sparingly in these
patients and monitor closely the response with a neuromuscular blockade monitor. There is controversy about the overlap between malignant
hyperthermia and some of the muscular dystrophies. Consequently, many
anesthetists avoid volatile anesthetic drugs in all these patients.
This disease is clinically and
histologically related to the other muscular dystrophies (which, in comparison,
are all predominant in the lower extremities). The reader will find them all described in this book.
Dresner DL, Ali HH: Anaesthetic management of a patient with
facioscapulohumeral muscular dystrophy. Br J Anaesth
Fitzsimons RB: Facioscapulohumeral muscular dystrophy. Curr Opin Neurol
Kissel JT: Facioscapulohumeral dystrophy. Semin Neurol...