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Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome?
Author(s) -
Selcen Duygu,
Kupsky William J.,
Benjamins David
Publication year - 2001
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/1097-4598(200101)24:1<138::aid-mus22>3.0.co;2-3
Subject(s) - organomegaly , medicine , arthrogryposis , hypotonia , muscle biopsy , noonan syndrome , congenital myopathy , myopathy , cardiomyopathy , muscle spindle , cardiology , anatomy , biopsy , polyneuropathy , heart failure , afferent
An infant presented with congenital weakness, hypotonia, arthrogryposis, atrial tachycardia, and a left intra‐abdominal neuroblastoma. Muscle biopsy revealed marked excess of muscle spindles with atrophy of extrafusal fibers. The patient expired at age 14 months from progressive cardiorespiratory failure. Postmortem examination demonstrated muscle‐spindle excess in other muscles, along with hypertrophic obstructive cardiomyopathy and organomegaly. Muscle spindle excess has previously been reported in two patients with Noonan syndrome and progressive hypertrophic cardiomyopathy. Muscle spindle excess with hypertrophic cardiomyopathy, organomegaly, and, possibly, congenital neuroblastoma suggests a syndromic association and may represent an unusual form of congenital myopathy. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 138–143, 2001