Abstract
Background
Muscle cramps are a common problem characterized by a sudden, painful, and involuntary
contraction of a muscle or muscle group. Most muscle cramps develop in the calf muscles,
particularly in situations of prolonged exercise; however, some may be related to
underlying systemic conditions such as the hereditary angiopathy with nephropathy,
aneurysms, and muscle cramps (HANAC) syndrome. Muscle cramps appear to be the initial
symptom of the HANAC syndrome; however, the clinical characteristics of these muscle
cramps have rarely been described in detail.
Case presentation
We report a familial case of autosomal-dominant muscle cramps in four members of a
Japanese family spanning across three generations. The muscle cramps were recognized
as systemic symptoms of the HANAC syndrome associated with a novel COL4A1 pathogenic variant, NM_001845:c.1538G > A, p.(Gly513Asp). The four affected individuals
indicated that the first episodes of the muscle cramps occurred in early childhood.
In addition, they reported that the muscle cramps are characterized by an abrupt onset
of severe pain without muscle contraction. The painful recurrent attacks occurred
spontaneously in various muscles throughout the body, but rarely in the calf muscle.
The muscle pain lasts for several minutes, cannot be ameliorated by stretching the
affected muscle, and leaves a feeling of discomfort that lasts for 24–48 h. The serum
creatine kinase levels of the patients were persistently elevated; however, their
electromyography results did not reveal any specific abnormalities.
Conclusions
Recognition of the clinical characteristics of the muscle cramps in the HANAC syndrome
may facilitate early diagnosis of the syndrome and enable proper treatment of the
patients, improve their long-term outcomes, and facilitate the design and adaption
of appropriate genetic counseling.
Keywords
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Article info
Publication history
Published online: March 14, 2023
Accepted:
February 26,
2023
Received in revised form:
February 13,
2023
Received:
November 8,
2022
Publication stage
In Press Corrected ProofIdentification
Copyright
© 2023 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
