Landouzy-Dejerine Dystrophy

At a glance

It is a genetically transmitted neuromuscular disease with a slow progression and characterized by weakness of facial, shoulder, and/or upper arm muscles. Nowadays it is more frequently called Facio-Scapulo-Humeral Muscular Dystrophy. It is characterized by muscle weakness and atrophy in the upper body. The presence of muscle atrophy in the hamstring and trunk muscles is more frequent than reported. The disease is clinically present before the age of 20 years. The onset may be as early as infancy or rarely later in adulthood. Life expectancy is not shortened.

Synonyms

Duchenne Landouzy Disease; Facio-Scapulo-Humeral Muscular Atrophy (or Dystrophy).

Incidence

The Facio-Scapulo-Humeral Muscular Atrophy is the third most common skeletal muscle inherited disease. The prevalence is established at 4:100,000 worldwide whereas it is estimated in the Netherlands significantly higher at 12:100,000. Symptoms may develop in early childhood and are usually noticeable in the teenage years, with 95% of affected individuals presenting the entire clinical manifestations by the age of 20 years.

Genetic inheritance

It is inherited as an autosomal dominant genetic condition. It affects a gene located on 4q35. Up to 30% of cases have no apparent family history of the disease and probably are related to new mutations.

Pathophysiology

Progressive muscle degeneration occurs. Histologic features are variations in fiber size, areas of necrosis, and deposition of fat and connective tissue.

Diagnosis

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. Deoxyribonucleic acid (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.

Clinical aspects

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; and inability to raise the arms is an early feature and facial weakness is a characteristic). The lower limbs are affected later.

Precautions before anesthesia

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.

Anesthetic considerations

Little has been published regarding anesthesia in this group, although the ...