An autopsied case of ADSSL1 myopathy

Atsuko Motoda; Tetsuya Takahashi; Chigusa Watanabe; Yoshiro Tachiyama; Kazuhide Ochi; Yoshihiko Saito; Aritoshi Iida; Ichizo Nishino; Hirofumi Maruyama

doi:10.1016/j.nmd.2021.07.011

An autopsied case of ADSSL1 myopathy

Neuromuscul Disord. 2021 Nov;31(11):1220-1225. doi: 10.1016/j.nmd.2021.07.011. Epub 2021 Jul 20.

Authors

Atsuko Motoda¹, Tetsuya Takahashi², Chigusa Watanabe³, Yoshiro Tachiyama⁴, Kazuhide Ochi⁵, Yoshihiko Saito⁶, Aritoshi Iida⁷, Ichizo Nishino⁸, Hirofumi Maruyama⁹

Affiliations

¹ Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima City, Hiroshima 734-8553, Japan; Department of Neurology, National Hospital Organization Hiroshimanishi Medical Center, 4-1-1 Kuba, Otake, Hiroshima 739-0696, Japan.
² Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima City, Hiroshima 734-8553, Japan; Department of Rehabilitation, Faculty of Rehabilitation, Hiroshima International University, 555-36 Kurosegakuendai, Higashihiroshima City, Hiroshima 739-2695, Japan. Electronic address: tetakaha@mac.com.
³ Department of Neurology, National Hospital Organization Hiroshimanishi Medical Center, 4-1-1 Kuba, Otake, Hiroshima 739-0696, Japan.
⁴ Department of Pathology, National Hospital Organization Hiroshimanishi Medical Center, 4-1-1 Kuba, Otake, Hiroshima 739-0696, Japan.
⁵ Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima City, Hiroshima 734-8553, Japan; Department of Neurology, Hiroshima City Asa Citizens Hospital, 2-1-1 Kabeminami, Asakita-ku, Hiroshima City, Hiroshima 731-0293, Japan.
⁶ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan.
⁷ Department of Clinical Genome Analysis, Medical Genome Center, NCNP, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan.
⁸ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan.
⁹ Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima City, Hiroshima 734-8553, Japan.

PMID: 34635388
DOI: 10.1016/j.nmd.2021.07.011

Abstract

ADSSL1 myopathy is an inherited myopathy with limb weakness, respiratory muscle paralysis, dysphagia, and myocardial symptoms. We present an autopsy case of a 66-year-old male carrying compound heterozygous variants c.781G>A (p.D261N) and c.919delA (p.I307fs) in ADSSL1. He had not run fast since school with no family history. He showed a gradual progression of limb weakness and developed dyspnoea, dysphagia, and Brugada syndrome at the age of 56. The magnetic resonance imaging (MRI) revealed bright tongue sign. Muscle biopsy showed only chronic myopathic changes. He died of respiratory muscle weakness at the age of 66. Autopsy revealed that there were many fibres with vacuoles and nemaline rods in the biceps brachii, tongue, diaphragm, and iliopsoas. Many lipopigments and nuclear clumps were also detected. The myocardium and central nervous system had only nonspecific age-related changes. This is the first autopsied case to clarify the terminal state of ADSSL1 myopathy.

Keywords: ADSSL1 myopathy; Autopsy; Bright tongue sign; Brugada syndrome; Pathology.

Publication types

Case Reports

MeSH terms

Adenylosuccinate Synthase*
Aged
Autopsy
Fatal Outcome
Humans
Magnetic Resonance Imaging
Male
Muscle Weakness / pathology
Muscle, Skeletal / pathology
Mutation
Myopathies, Nemaline / pathology*

Substances

ADSS1 protein, human
Adenylosuccinate Synthase