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Familial dropped head syndrome with extremity muscle weakness
Author(s) -
Tsunoda Keiichiro,
Hishikawa Nozomi,
Omote Yoshio,
Ikegami Ken,
Nakano Yumiko,
Sato Kota,
Takemoto Mami,
Ohta Yasuyuki,
Yamashita Toru,
Abe Koji
Publication year - 2020
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12382
Subject(s) - medicine , muscle biopsy , myopathy , proband , weakness , atrophy , creatine kinase , muscle atrophy , muscle weakness , anatomy , biopsy , pathology , biochemistry , chemistry , mutation , gene
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.