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Form of autosomal recessive congenital muscular dystrophy.

Congenital Muscular Dystrophy with Infantile Cataract and Hypogonadism.

In 1956 H.H. Bassoe described a syndrome of congenital muscular dystrophy, infantile cataract, and hypogonadism (in females, ovarian agenesis; in males, Klinefelter syndrome). Seven persons living in a small, isolated Norwegian village were identified.

Clinical signs include hypotonia, abnormal gait, expressionless face, cataract, amyotrophy/muscle agenesis, and small/atrophic testicles, which may result in late puberty or hypogonadism as a late sign. Less frequent signs include ptosis, kyphosis, hyperextensible joints, abnormally placed nipples, squinting/paresis of ocular muscles, and increased carrying angle of the elbows.

No literature about this condition associated with anesthesia is available, but certain considerations can be made. Because weakness of muscles can be extensive, the same precautions as for congenital muscular dystrophy are recommended. The disease requires a complete workup, including neurologic and motor milestones, family history, and previous medical problems. Respiratory function should be checked by chest radiography and arterial blood gas analysis. Preoperative physiotherapy likely will be beneficial. Postoperative mechanical ventilation may be necessary in severely affected patients. Delayed respiratory failure may occur. Plan to use regional anesthesia techniques where possible. Remember, the possibility of severe paucisymptomatic cardiac disease.

Succinylcholine may cause rhabdomyolysis and cardiac arrest as a consequence of hyperkalemia.

Bassoe HH: Familial congenital muscular dystrophy with gonadal dysgenesis. J Clin Endocrinol 16:1614, 1956.  [PubMed: 13385309]

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