Familial dropped head syndrome with extremity muscle weakness

被引：0

作者：

Tsunoda, Keiichiro ^{[1
]}

Hishikawa, Nozomi ^{[1
]}

Omote, Yoshio ^{[1
]}

Ikegami, Ken ^{[1
]}

Nakano, Yumiko ^{[1
]}

Sato, Kota ^{[1
]}

Takemoto, Mami ^{[1
]}

Ohta, Yasuyuki ^{[1
]}

Yamashita, Toru ^{[1
]}

Abe, Koji ^{[1
]}

机构：

[1] Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Neurol, 2-5-1 Shikatacho, Okayama 7008558, Japan

来源：

NEUROLOGY AND CLINICAL NEUROSCIENCE | 2020年 / 8卷 / 04期

关键词：

autosomal dominant; congenital myopathy; dropped head syndrome;

D O I：

10.1111/ncn3.12382

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a new case of familial dropped head syndrome (DHS) due to myopathy. The proband is a 63-year-old woman, and her younger sister and son also showed DHS. She was not good at sport since elementary school and showed unique muscle weakness in her paraspine and four limbs. A blood test showed a slight increase in creatine kinase (237 IU/mL) and myoglobin (95 ng/mL). An electromyogram showed myogenic change, and computed tomography revealed a normal muscle volume of the neck but paraspinal muscle atrophy. Muscle biopsy of the right femoral muscle found type 2 fiber atrophy. Based on these unique clinical features, this is the first report of familial DHS which probably due to congenital myopathy.

引用

页码：189 / 191

页数：3

共 9 条

[1] Congenital myopathies: clinical phenotypes and new diagnostic tools [J].