Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.

Humans Muscular Dystrophy, Oculopharyngeal / genetics Muscle, Skeletal / diagnostic imaging Muscular Diseases / genetics Disease Progression
Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Skeletal muscle imaging

Journal

Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 18 06 2023
accepted: 25 07 2023
revised: 24 07 2023
medline: 9 11 2023
pubmed: 27 8 2023
entrez: 27 8 2023
Statut: ppublish

Résumé

Oculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness. Even though the identification of four causative genes, LRP12, GIPC1, NOTCH2NLC and RILPL1, it is unclear whether the myopathy progressed similarly among OPDM subtypes. We aimed to establish diagnostic clues in muscle imaging of OPDM in comparison with clinicopathologically similar oculopharyngeal muscular dystrophy (OPMD). Axial muscle CT and/or T1-weighted MRI data from 54 genetically confirmed patients with OPDM (OPDM_LRP12; n = 43, OPDM_GIPC1; n = 6, OPDM_NOTCH2NLC; n = 5) and 57 with OPMD were evaluated. We scored the degree of fat infiltration in each muscle by modified Mercuri score and performed hierarchical clustering analyses to classify the patients and infer the pattern of involvement on progression. All OPDM subtypes showed a similar pattern of distribution in the affected muscles; soleus and medial gastrocnemius involved in the early stage, followed by tibialis anterior and extensor digitorum longus. For differentiating OPDM and OPMD, severely affected gluteus medius/minimus and adductor magnus was indicative of OPMD. We identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history. The results of this study will help in the appropriate intervention based on the diagnosis of OPDM, including its stage.

Sections du résumé

BACKGROUND AND OBJECTIVES OBJECTIVE
Oculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness. Even though the identification of four causative genes, LRP12, GIPC1, NOTCH2NLC and RILPL1, it is unclear whether the myopathy progressed similarly among OPDM subtypes. We aimed to establish diagnostic clues in muscle imaging of OPDM in comparison with clinicopathologically similar oculopharyngeal muscular dystrophy (OPMD).
METHODS METHODS
Axial muscle CT and/or T1-weighted MRI data from 54 genetically confirmed patients with OPDM (OPDM_LRP12; n = 43, OPDM_GIPC1; n = 6, OPDM_NOTCH2NLC; n = 5) and 57 with OPMD were evaluated. We scored the degree of fat infiltration in each muscle by modified Mercuri score and performed hierarchical clustering analyses to classify the patients and infer the pattern of involvement on progression.
RESULTS RESULTS
All OPDM subtypes showed a similar pattern of distribution in the affected muscles; soleus and medial gastrocnemius involved in the early stage, followed by tibialis anterior and extensor digitorum longus. For differentiating OPDM and OPMD, severely affected gluteus medius/minimus and adductor magnus was indicative of OPMD.
DISCUSSION CONCLUSIONS
We identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history. The results of this study will help in the appropriate intervention based on the diagnosis of OPDM, including its stage.

Identifiants

DOI: 10.1007/s00415-023-11906-9 PMID: 37634163
pubmed: 37634163
doi: 10.1007/s00415-023-11906-9
pii: 10.1007/s00415-023-11906-9
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

5988-5998

Subventions

Organisme : National Center of Neurology and Psychiatry
ID : 2-5
Organisme : National Center of Neurology and Psychiatry
ID : 29-4
Organisme : Japan Agency for Medical Research and Development
ID : 20ek0109490h0001
Organisme : Japan Agency for Medical Research and Development
ID : JP19ek0109285h0003
Organisme : Japan Agency for Medical Research and Development
ID : JP21ek0109490h0002

Investigateurs

Takahiko Mukaino (T)
Mori-Yoshimura Madoka (MY)
Makiko Nagai (M)
Masayuki Ochi (M)
Makoto Shibata (M)
Kazutaka Shiomi (K)
Satoshi Yamashita (S)
Toru Yamashita (T)

Informations de copyright

© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.

Références

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Auteurs

Nobuyuki Eura (N)

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.
Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan.

Satoru Noguchi (S)

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.

Masashi Ogasawara (M)

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.
Department of Pediatrics, Showa General Hospital, Kodaira, Tokyo, Japan.

Theerawat Kumutpongpanich (T)

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.

Shinichiro Hayashi (S)

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.

Ichizo Nishino (I)

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan. nishino@ncnp.go.jp.
ORCID: 0000-0001-9452-112X

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Characteristics of the muscle involvement...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophie musculaire oculopharyngée › Characteristics of the muscle involvement...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › Characteristics of the muscle involvement...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Characteristics of the muscle involvement...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Évolution de la maladie › Characteristics of the muscle involvement...