<p><b>BACKGROUND</b>
Myopathies with rimmed
vacuoles are a heterogeneous group of
muscle disorders with progressive
muscle weakness and varied clinical manifestations but
similar features in
muscle biopsies. Here, we describe a novel autosomal dominant
myopathy with rimmed
vacuoles in a large
family with 11
patients of three
generations affected.</p><p><b>
METHODS</b>A
clinical study including
family history, obstetric, pediatric, and development
history was recorded. Clinical examinations including
physical examination,
electromyography (EMG),
serum creatine kinase (CK),
bone X-rays, and
brain magnetic resonance imaging (MRI) were performed in this
family. Open
muscle biopsies were performed on the proband and his
mother. To find the causative
gene, the whole-
exome sequencing was carried out.</p><p><b>RESULTS</b>
Disease onset was from
adolescence to adulthood, but the affected
patients of the third generation presented an earlier onset and more severe clinical manifestations than the older
generations. Clinical features were characterized as
dysarthria,
dysphagia,
external ophthalmoplegia,
limb weakness, hypophrenia,
deafness, and impaired
vision. However, not every
patient manifested all symptoms.
Serum CK was mildly elevated and EMG indicated a myopathic pattern.
Brain MRI showed
cerebellum and
brain stem mildly
atrophy. Rimmed
vacuoles and
inclusion bodies were observed in
muscle biopsy. The whole-
exome sequencing was performed, but the causative
gene has not been found.</p><p><b>CONCLUSIONS</b>We reported a novel autosomal dominant
myopathy with rimmed
vacuoles characterized by
dysarthria,
dysphagia,
external ophthalmoplegia,
limb weakness, hypophrenia,
deafness, and impaired
vision, but the causative
gene has not been found and
needs further study.</p>