Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

Salim, Ruth; Dahlqvist, Julia R.; Khawajazada, Tahmina; Kass, Konni; Revsbech, Karoline Lolk; Borch, Josefine de Stricker; Sheikh, Aisha Munawar; Vissing, John

doi:10.1007/s00415-020-09860-x

Cited by 13 publications

(9 citation statements)

References 23 publications

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“…Figur 1 Transversalt T1-vektet MR-bilde av lårene viser symmetrisk patologisk fe infiltrasjon i muskulaturen med «target sign» i musculus rectus femoris (pil 1) som representerer sentral fe infiltrasjon med bedre bevart muskulatur perifert, og «sandwich sign» i musculus vastu lateralis som representerer perifer fe infiltrasjon med bedre bevart muskulatur sentralt (pil 2) (12)(13)(14). Ved Bethlem-myopati ses typisk moderat svekkelse og atrofi av musklene i trunkus og ekstremitetene.…”

Section: Kvinnen Ble Henvist Videre For Nevrologisk Vurdering Og Tren...unclassified

“…MR-undersøkelse beny es i økende grad i utredning av sykdommer som affiserer muskulatur, først og fremst for å velge egnet biopsisted, men også som diagnostisk verktøy for å gjenkjenne utbredelse og mønstre av muskelødem og fe infiltrasjon. Kollagen 6-relaterte myopat som Bethlem-myopati har et distinkt, men ikke patognomonisk mønster med sentral fe infiltrasjon i m. rectus femoris og perifer fe infiltrasjon i m. vastus lateralis med relativ utsparing sentralt, som resulterer i «sandwich-tegnet» (12)(13)(14).…”

Section: Kvinnen Ble Henvist Videre For Nevrologisk Vurdering Og Tren...unclassified

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A woman in her fifties with chronic muscle weakness

Rustad¹,

Tveten²,

Braathen³

et al. 2022

Tidsskriftet

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Section: Kvinnen Ble Henvist Videre For Nevrologisk Vurdering Og Tren...unclassified

A woman in her fifties with chronic muscle weakness

Rustad¹,

Tveten²,

Braathen³

et al. 2022

Tidsskriftet

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“…LGMDR14 POMT2-related deficiency [19], LGMDR26 POPDC3related deficiency [20], LGMDR9 FKRP-related [21] and other myopathies with pronounced limb-girdle weakness [22,23].…”

Section: Discussionmentioning

confidence: 99%

“…This is unlike the findings of severely affected paraspinal muscles in several other LGMDs. Thus, severe paraspinal muscle involvement has been demonstrated for most other LGMDs, including both dominantly and recessively inherited calpainopathy (LGMDR1 and LGMDD4) [14–16], dysferlinopathy (LGMDR2) [15], LGMDR19 GMPPB‐related [17], sarcoglycanopathies (LGMDR3‐5) [5, 18], LGMDR14 POMT2‐related deficiency [19], LGMDR26 POPDC3‐related deficiency [20], LGMDR9 FKRP‐related [21] and other myopathies with pronounced limb‐girdle weakness [22, 23].…”

Section: Discussionmentioning

confidence: 99%

Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

Khawajazada

Kass

Rudolf

et al. 2021

Euro J of Neurology

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Several muscle diseases are traditionally named after the topography of muscle affection. Attention to the involvement of the axial musculature, however, is scarce, possibly due to the difficulties in assessing strength in these muscles compared with muscles of the limbs and face. Consequently, the involvement of the axial musculature is largely unexplored in muscle diseases [1]. Recently, several magnetic resonance imaging (MRI) studies have described significant involvement of the paraspinal musculature in patients with facioscapulohumeral dystrophy (FSHD) [2], and limb-girdle muscular dystrophy (LMGD) types R1 [3], R2 [4] and R3 [3, 5]. However, no

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“…In collagen VI-related myopathy, fatty and connective tissue muscle replacement usually starts around the fascia with this fining more obvious at the rectus femoris and vastus lateralis muscles. Although this “ring-like” pattern of muscle affection is helpful, it is usually absent in advanced cases [6, 34]. In our study specific patterns of involvement were noticed within the muscle itself as “ring-like” affection in rectus femoris muscle, “granular” pattern of affection in deltoid, sartorius and gracilis muscles, “striated” pattern in gastrocnemius muscle and “lateral more than medial” affection in erector spinae muscle [Figure 6].…”

Section: Discussionmentioning

confidence: 99%

Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children

Hm¹,

Fahmy

Elsayed

et al. 2021

Preprint

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Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. We used a control group of other hereditary muscle diseases, which included 13 children. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al 2008. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differed from that in control group. There was a highly statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, rotator cuff, deltoid, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of merosin deficient CMD.

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Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

Cited by 13 publications

References 23 publications

A woman in her fifties with chronic muscle weakness

A woman in her fifties with chronic muscle weakness

Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children

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