Bilateral extraocular muscle atrophy in myotonic dystrophy type 1

Yamashita, Taro; Matsubara, Erika; Nagano, Ichiro; Shoji, Mikio; Abe, Kōji

doi:10.1212/01.wnl.0000134678.45047.f4

Cited by 11 publications

(7 citation statements)

References 6 publications

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“…Brain MRI can also show small and atrophic extraocular muscles, 3 providing additional evidence of oculomotor muscle involvement in DM1 and the pathologic relevance of this imaging findings in some patients presenting with ophthalmoplegia.…”

Section: Discussionmentioning

confidence: 93%

External Ophthalmoplegia and Brainstem White Matter Lesions

Igreja¹,

Ribeiro

Cardoso³

et al. 2022

The Neurologist

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Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant condition which phenotype can be extremely variable considering its multisystem involvement, including the central nervous system. Neuromuscular findings are facial and distal extremities muscle weakness, muscle atrophy and myotonia. Standard diagnosis is obtained with molecular testing to detect CTG expansions in the myotonic dystrophy protein of the kinase gene. Brain magnetic resonance imaging typically shows characteristic subcortical white matter (WM) abnormalities located within anterior temporal lobes.Case Report: We present a 39-year-old male patient with a progressive external ophthalmoplegia, facial and limb muscle weakness, percussion myotonia and atypical brain magnetic resonance imaging findings, showing confluent brainstem WM lesions, affecting the pons, a rare radiologic feature in this disorder. Genetic testing confirmed the diagnosis for DM1. Conclusion:This presentation with external ophthalmoplegia and brainstem WM loss in DM1 can show an important correlation with clinical findings and have an important diagnostic and prognostic value.

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Section: Discussionmentioning

confidence: 93%

External Ophthalmoplegia and Brainstem White Matter Lesions

Igreja¹,

Ribeiro

Cardoso³

et al. 2022

The Neurologist

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“…Frank ophthalmoplegia is extremely rare in DM1 and not observed in myotonic dystrophy type 2. External ophthalmoplegia is present in some severe cases like congenital form [ 6 7 8 ]. However, it is not relevant that our patient appears to have a congenital form of DM1, given its onset age and severity.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1

Kim

Kang

2016

Exp Neurobiol

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Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1.

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“…In MG, ptosis is classically associated with fluctuations due to neuromuscular fatigue. Ophthalmoparesis is common in MG, but it can also occur infrequently in DM1 as a consequence of external ophthalmoplegia 37. The fluctuating nature of the patient's diplopia would be more in keeping with MG than DM1.…”

Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma

2008

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Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multisystemic disorder that may rarely be associated with benign and malignant neoplasms. Cases of both thymoma and myasthenia gravis in association with DM1 are extremely rare. A literature review revealed only three prior reports. We present a 51-year-old man with a family history of DM1 and fluctuating diplopia and ptosis, who was found to have acetylcholine receptor-binding antibodies, thymoma, and a clinical presentation compatible with ocular myasthenia gravis as well as positive genetic testing for DM1. Needle electromyographic (EMG) study demonstrated diffuse runs of myotonic discharges in multiple muscles, consistent with the diagnosis of DM1. Single-fiber EMG showed both increased jitter and blocking. Due to somatic instability, which has been shown previously in DM1, the myotonin protein kinase (DMPK) gene appears to act as a tumor suppressor. Therefore, abnormal CTG repeat expansions in the gene could lead to the development of thymoma and myasthenia gravis.

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Bilateral extraocular muscle atrophy in myotonic dystrophy type 1

Cited by 11 publications

References 6 publications

External Ophthalmoplegia and Brainstem White Matter Lesions

External Ophthalmoplegia and Brainstem White Matter Lesions

Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma

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