Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar Atrophy
Notice bibliographique
Résumé
Dear Editor,Myotonic dystrophy (DM) is a dominantly inherited muscular dystrophy involving multiple systems. 1 We report a case with cerebellar ataxia and cerebellar atrophy that was finally diagnosed as DM type 1 (DM1).A 50-year-old female presented with a 4-year history of progressive gait imbalance and slurred speech.She had been diagnosed with diabetes about 20 years previously, and had cataracts for 8 years.She developed grip myotonia at the age of 20 years.Her younger brother had diabetes for about 10 years and had been walking unsteadily for almost 2 years.Our patient presented with bilateral temporal muscle atrophy, frontal alopecia, and severe gait ataxia requiring support.A neurological examination revealed dysarthria and weakness of bilateral eyelids and neck flexion.Nystagmus was absent.Bilateral hyperalgesia and reduced vibratory sensation were found distal to the ankle joints.Light-touch and position senses were intact.The strengths of bilateral wrist flexion, bilateral grip and finger extension/flexion, bilateral plantar dorsiflexion, and all proximal limbs were grades 4+, 4, 4, and 5, respectively.Her tendon reflexes and muscle tone were decreased.A negative Romberg sign and clumsy rapidly alternating hand movements were observed.Bilateral finger-to-nose and heel-to-shin tests were abnormal.No pyramidal sign was observed.Magnetic resonance imaging (MRI) demonstrated high-intensity T2-weighted lesions in the white matter of the temporal pole and the periventricular region (Fig. 1A).MRI also showed prominent cerebellar atrophy, which had deteriorated from 2018 to 2022 (Fig. 1B-D).Consistent with the MRI findings, in 2018 the patient starting developing unsteadiness and slurred speech, but she could still walk with assistance and engage in communication.However, by 2022 she had lost the ability to walk and communicate.The Mini-Mental State Examination (19 points) and Montreal Cognitive Assessment (12 points) revealed impaired cognition.A nerve conduction velocity study revealed polyneuropathy mainly involving the sensory and motor axons.Electromyography indicated myogenic damage and myotonia potentials in multiple muscles.Electronystagmography revealed damage to the cerebellum and its related fibers.Genetic sequencing revealed the abnormal expansion of a CTG triplet repeat in the noncoding region of the DMPK gene (135 copies).However, we could not obtain genetic data for her younger brother.Based on genetic findings, the patient was diagnosed with DM1.Manifestations supporting a diagnosis of multiple-system atrophy (MSA) or other neurodegenerative diseases were not found.Whole-exome sequencing did not reveal other pathogenic mutations.Repeat expansions associated with spinocerebellar ataxia were examined in genes including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, PPP2R2B, TBP, ATN1, FXN, ATXN10, and NOP56, but no abnormality was found.Neuroimaging abnormalities of DM1 are mainly found in the frontal and anterior temporal lobes, including cortical atrophy and subcortical white-matter hyperintensities.2,3 Previ-
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Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,005 |
| Méta-épidémiologie (sens strict) | 0,002 | 0,001 |
| Méta-épidémiologie (sens large) | 0,002 | 0,001 |
| Bibliométrie | 0,002 | 0,001 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,002 | 0,003 |
| Science ouverte | 0,002 | 0,001 |
| Intégrité de la recherche | 0,005 | 0,005 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,003 | 0,003 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».