Immune-mediated rippling muscle disease and myasthenia gravis

Bettini, Mariela; Gonorazky, Hernan; Chaves, Marcelo; Fulgenzi, E.; Figueredo, Alejandra; Christiansen, Stefan; Cristiano, Edgardo; Bertini, Enrico; Rugiero, Marcelo

doi:10.1016/j.jneuroim.2016.08.011

Cited by 10 publications

(5 citation statements)

References 14 publications

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“…In contrast, calf hypertrophy is absent in iRMD, and symptoms tend to start earlier in our CAV3 ‐mutated patients (median = 27 years old) than in iRMD patients (median = 60 years old). The frequent association with myasthenia gravis is also a distinguishing feature in favor of iRMD [29]. On the contrary, a family history, identification of a CAV3 gene pathogenic variant, and the fatty involvement on muscle imaging are supportive of a genetic cause of RMD.…”

Section: Discussionmentioning

confidence: 99%

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Berling

Verebi

Venturelli

et al. 2023

Euro J of Neurology

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Background and purpose CAV3 gene mutations, mostly inherited as an autosomal dominant trait, cause various skeletal muscle diseases. Clinical presentations encompass proximal myopathy, distal myopathy, or isolated persistent high creatine kinase (CK) with a major overlapping phenotype. Methods Twenty‐three patients with CAV3 symptomatic mutations, from 16 different families, were included in a retrospective cohort. Mean follow‐up duration was 24.2 ± 15.0 years. Clinical and functional data were collected during the follow‐up. The results of muscle imaging, electroneuromyography, muscle histopathology, immunohistochemistry, and caveolin‐3 Western blot analysis were also compiled. Results Exercise intolerance was the most common phenotype (52%). Eighty percent of patients had calf hypertrophy, and only 65% of patients presented rippling. One patient presented initially with camptocormia. A walking aid was required in only two patients. Electroneuromyography was mostly normal. CK level was elevated in all patients. No patient had cardiac or respiratory impairment. Muscle imaging showed fatty involvement of semimembranosus, semitendinosus, rectus femoris, biceps brachialis, and spinal muscles. Almost all (87%) of the biopsies were abnormal but without any specific pattern. Whereas a quarter of patients had normal caveolin‐3 immunohistochemistry results, Western blots disclosed a reduced amount of the protein. We report nine mutations, including four not previously described. No phenotype–genotype correlation was evidenced. Conclusions Caveolinopathy has diverse clinical, muscle imaging, and histological presentations but often has limited functional impact. Mild forms of the disease, an atypical phenotype, and normal caveolin‐3 immunostaining are pitfalls leading to misdiagnosis.

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Section: Discussionmentioning

confidence: 99%

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Berling

Verebi

Venturelli

et al. 2023

Euro J of Neurology

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“…There have been no AChR-Ab-positive RMD cases without associated cancers or MG reported in the literature. Indeed, thus far, all 21 reported cases with AChR-Ab-positive RMD were associated with MG or cancers and consistently responded to immunosuppressive treatments ( 2 - 4 , 6 , 8 , 10 , 11 , 13 - 17 ).…”

Section: Discussionmentioning

confidence: 99%

“…Rippling muscle disease (RMD) is a rare disorder characterized by muscle stiffness, muscle hypertrophy and rippling muscle induced by stretching or percussion that occurs in both familial and sporadic forms (1,2). Most cases with non-familial RMD cases have been reported to be associated with autoimmune diseases or cancers and responded to immunosuppressive therapy (2)(3)(4)(5)(6)(7)(8)(9). However, sporadic RMD cases initially unassociated with autoimmune or malignant disorders rarely undergo treatments and sometimes later develop myasthenia gravis (MG) (4,10,11).…”

Section: Introductionmentioning

confidence: 99%

Rippling Muscle Disease with Irregular Toe Jerks and Anti-acetylcholine Receptor Antibodies: Remission after Extended Thymectomy

et al. 2022

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We herein report a 63-year-old rippling muscle disease (RMD) patient who presented with painless stiffness, muscle hypertrophy and muscle contractions elicited by mechanical stimulation. He also showed irregular toe jerks and a slightly elevated level of anti-acetylcholine receptor antibody (AChR-Ab). Since he had a mediastinal mass mimicking thymoma, which was later revealed to be a bronchial cyst, he underwent extended thymectomy. The irregular toe jerks disappeared within a week after the operation. The other muscle symptoms completely remitted 27 months after the onset. This is the first report of a sporadic case of RMD with irregular toe jerks that resolved after extended thymectomy.

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“…Immune‐mediated rippling muscle disease (RMD) is another acquired muscle disorder reported to occur in myasthenia gravis patients . RMD is characterized by self‐propagating muscle rippling induced by percussion and is classically but not always silent on electromyography .…”

Section: Acquired Neuromuscular Junction Disorders With Coexisting Mymentioning

confidence: 99%

“…Muscle biopsy in immune‐mediated RMD demonstrates a mosaic loss of caveolin 3 immunoreactivity, suggesting a pathophysiological link with inherited RMD. Mild elevations of creatine kinase and myopathic abnormalities or inflammation on muscle biopsy are also frequent …”

Section: Acquired Neuromuscular Junction Disorders With Coexisting Mymentioning

confidence: 99%

Trouble at the junction: When myopathy and myasthenia overlap

2019

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Although myopathies and neuromuscular junction disorders are typically distinct, their coexistence has been reported in several inherited and acquired conditions. Affected individuals have variable clinical phenotypes but typically display both a decrement on repetitive nerve stimulation and myopathic findings on muscle biopsy. Inherited causes include myopathies related to mutations in BIN1, DES, DNM2, GMPPB, MTM1, or PLEC and congenital myasthenic syndromes due to mutations in ALG2, ALG14, COL13A1, DOK7, DPAGT1, or GFPT1. Additionally, a decrement due to muscle fiber inexcitability is observed in certain myotonic disorders. The identification of a defect of neuromuscular transmission in an inherited myopathy may assist in establishing a molecular diagnosis and in selecting patients who would benefit from pharmacological correction of this defect. Acquired cases meanwhile stem from the co‐occurrence of myasthenia gravis or Lambert‐Eaton myasthenic syndrome with an immune‐mediated myopathy, which may be due to paraneoplastic disorders or exposure to immune checkpoint inhibitors.

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Immune-mediated rippling muscle disease and myasthenia gravis

Cited by 10 publications

References 14 publications

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Rippling Muscle Disease with Irregular Toe Jerks and Anti-acetylcholine Receptor Antibodies: Remission after Extended Thymectomy

Trouble at the junction: When myopathy and myasthenia overlap

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