An autopsied case of ADSSL1 myopathy.

Adenylosuccinate Synthase Aged Autopsy Fatal Outcome Humans Magnetic Resonance Imaging Male Muscle Weakness / pathology Muscle, Skeletal / pathology Mutation Myopathies, Nemaline / pathology
ADSSL1 myopathy Autopsy Bright tongue sign Brugada syndrome Pathology

Journal

Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470

Informations de publication

Date de publication:
11 2021
Historique:
received: 08 09 2020
revised: 04 07 2021
accepted: 14 07 2021
pubmed: 13 10 2021
medline: 11 3 2022
entrez: 12 10 2021
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.nmd.2021.07.011 PMID: 34635388
pubmed: 34635388
pii: S0960-8966(21)00193-0
doi: 10.1016/j.nmd.2021.07.011
pii:
doi:

Substances chimiques

ADSS1 protein, human EC 6.3.4.4
Adenylosuccinate Synthase EC 6.3.4.4

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

1220-1225

Informations de copyright

Copyright © 2021 Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Atsuko Motoda (A)

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.

Tetsuya Takahashi (T)

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.

Chigusa Watanabe (C)

Department of Neurology, National Hospital Organization Hiroshimanishi Medical Center, 4-1-1 Kuba, Otake, Hiroshima 739-0696, Japan.

Yoshiro Tachiyama (Y)

Department of Pathology, National Hospital Organization Hiroshimanishi Medical Center, 4-1-1 Kuba, Otake, Hiroshima 739-0696, Japan.

Kazuhide Ochi (K)

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.

Yoshihiko Saito (Y)

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.

Aritoshi Iida (A)

Department of Clinical Genome Analysis, Medical Genome Center, NCNP, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan.

Ichizo Nishino (I)

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.

Hirofumi Maruyama (H)

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.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Carbon-nitrogen ligases › Adenylosuccinate synthase › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Sciences sociales › Criminologie › Sciences légales › Médecine légale › Autopsie › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Mortalité › Issue fatale › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Faiblesse musculaire › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › An autopsied case of ADSSL1 myopathy.
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Myopathies congénitales structurales › Myopathies némaline › An autopsied case of ADSSL1 myopathy.