Characteristic MRI findings of upper limb muscle involvement in myotonic dystrophy type 1

Sugie, Kazuma; Sugie, Miho; Taoka, Toshiaki; Tonomura, Yasuyo; Kumazawa, Aya; Izumi, Tohru; Ueno, S.; Kichikawa, Kimihiko

doi:10.1016/j.nmd.2015.06.312

Cited by 3 publications

(5 citation statements)

References 10 publications

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“…Non‐invasive assessment of skeletal limb muscles has been reported primarily using MRI. T1‐weighted sequences were used to identify fibro‐adipose degeneration, whereas sequences such as T2‐relaxation time measurement and turbo inversion recovery magnitude sequences were used for assessment of edema‐like changes . These studies consistently reported frequent involvement of the FDP, the mGC and the tibialis anterior, in accordance with the present study.…”

Section: Discussionsupporting

confidence: 88%

“…Muscle imaging has been utilized for assessment of involvement in neuromuscular diseases, such as localization of involvement and interval assessment of disease progression/improvement. In DM1, several studies report muscle involvement by magnetic resonance imaging (MRI) [5][6][7][8] and by ultrasonography in selected muscles [9]. These studies fairly consistently reported frequent signal abnormalities in finger flexors, the medial head of the gastrocnemius (mGC), the soleus and the vastus medialis.…”

Section: Introductionmentioning

confidence: 99%

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Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1

Takamatsu

Sogawa

Nodera

et al. 2016

Euro J of Neurology

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Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1

Takamatsu

Sogawa

Nodera

et al. 2016

Euro J of Neurology

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“…Several MRI studies, mainly including small cohorts of patients and focusing on the lower limbs, have assessed the pattern and severity of muscle involvement in DM1 [15–19]. Two other studies explored the muscle involvement of upper limbs but omitted head, neck and scapular girdle muscles [20,21]. A recent study analyzed the fat fraction and atrophy in 20 lower extremity muscles of 33 DM1 patients by quantitative muscle MRI, suggesting it as a valuable biomarker for this disease [22].…”

Section: Introductionmentioning

confidence: 99%

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials

Garibaldi

Nicoletti

Bucci

et al. 2021

Euro J of Neurology

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Background Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle involvement, to better understand the pathophysiological mechanisms of muscle weakness, and to identify potential imaging biomarkers for disease activity and severity. Methods One hundred and thirty‐four DM1 patients underwent a cross‐sectional muscle magnetic resonance imaging (MRI) study. Short tau inversion recovery (STIR) and T1 sequences in the lower and upper body were analyzed. Fat replacement, muscle atrophy and STIR positivity were evaluated using three different scales. Correlations between MRI scores, clinical features and genetic background were investigated. Results The most frequent pattern of muscle involvement in T1 consisted of fat replacement of the tongue, sternocleidomastoideus, paraspinalis, gluteus minimus, distal quadriceps and gastrocnemius medialis. Degree of fat replacement at MRI correlated with clinical severity and disease duration, but not with CTG expansion. Fat replacement was also detected in milder/asymptomatic patients. More than 80% of patients had STIR‐positive signals in muscles. Most DM1 patients also showed a variable degree of muscle atrophy regardless of MRI signs of fat replacement. A subset of patients (20%) showed a ‘marbled’ muscle appearance. Conclusions Muscle MRI is a sensitive biomarker of disease severity alsofor the milder spectrum of disease. STIR hyperintensity seems to precede fat replacement in T1. Beyond fat replacement, STIR positivity, muscle atrophy and a ‘marbled’ appearance suggest further mechanisms of muscle wasting and weakness in DM1, representing additional outcome measures and therapeutic targets for forthcoming clinical trials.

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“… 36–39 In one cohort, moderate or severe finger flexor weakness was identified in 73% of patients, making this the most common site of weakness in DM1 37 . Imaging studies have corroborated this finding, demonstrating selective involvement of the FDP over other distal upper limb muscles 40,41 . One report also suggested preferential MRI involvement of the lateral part of the FDP, supplying the index and middle fingers 40 .…”

Section: Myotonic Dystrophiesmentioning

confidence: 89%

“…Imaging studies have corroborated this finding, demonstrating selective involvement of the FDP over other distal upper limb muscles 40,41 . One report also suggested preferential MRI involvement of the lateral part of the FDP, supplying the index and middle fingers 40 . In addition to being the most common site of weakness, finger flexor strength may also show the fastest rate of decline over time 38,39 …”

Section: Myotonic Dystrophiesmentioning

confidence: 90%

Myopathies with finger flexor weakness: Not only inclusion‐body myositis

2020

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Muscle disorders are characterized by differential involvement of various muscle groups. Among these, weakness predominantly affecting finger flexors is an uncommon pattern, most frequently found in sporadic inclusion-body myositis. This finding is particularly significant when the full range of histopathological findings of inclusion-body myositis is not found on muscle biopsy. Prominent finger flexor weakness, however, is also observed in other myopathies. It occurs commonly in myotonic dystrophy types 1 and 2. In addition, individual reports and small case series have documented finger flexor weakness in sarcoid and amyloid myopathy, and in inherited myopathies caused by ACTA1, CRYAB, DMD, DYSF, FLNC, GAA, GNE, HNRNPDL, LAMA2, MYH7, and VCP mutations. Therefore, the finding of finger flexor weakness requires consideration of clinical, myopathological, genetic, electrodiagnostic, and sometimes muscle imaging findings to establish a diagnosis. K E Y W O R D S distal myopathy, finger flexor weakness, inclusion-body myositis, myopathy with rimmed vacuoles, myotonic dystrophy 2 | SPORADIC INCLUSION-BODY MYOSITIS sIBM is the most common acquired myopathy after 50 years of age. 3 Its pattern of upper limb muscle involvement has been extensively characterized by both clinical examination and imaging, 4-11 and primarily involves finger flexor muscles. The flexor digitorum profundus (FDP) and flexor pollicis longus are most frequently and most severely affected (Figure 1A,B), with weakness demonstrated in approximately 90% of sIBM patients. 5-7 Within the FDP itself, different fingers can be involved to different degrees. 12 The FDP inserts onto the distal

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Characteristic MRI findings of upper limb muscle involvement in myotonic dystrophy type 1

Cited by 3 publications

References 10 publications

Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1

Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials

Myopathies with finger flexor weakness: Not only inclusion‐body myositis

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