Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

Tasca, Giorgio; Monforte, Mauro; Ottaviani, P; Pelliccioni, Marco; Frusciante, Roberto; Laschena, Francesco; Ricci, Enzo

doi:10.1002/ana.24640

Cited by 89 publications

(103 citation statements)

References 40 publications

(57 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…4) head), adductor magnus and longus, gastrocnemius medialis and tibialis posterior appeared to be less severely affected. Notably, tibialis posterior is affected early in the disease course, contrary to the majority of myopathies, in particular LDMG and distal myopathies, in which tibialis posterior is frequently spared even in the late-end stages of the disease course [17,[25][26][27][28][29]. Muscles of anterior compartment of the leg are variably affected during the disease course while quadriceps and psoas become affected in the late-end stages of disease.…”

Section: Discussionmentioning

confidence: 99%

“…Muscles of anterior compartment of the leg are variably affected during the disease course while quadriceps and psoas become affected in the late-end stages of disease. Psoas sparing can help to recognize NLSD from other myopathies in the late-end course of the disease when specificity of the MRI pattern involvement disappears or the muscle biopsy may be not informative [17,[25][26][27][28][29]. Sparing of sartorius, gracilis and pectineus is constantly observed in all cases.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi

Tasca

Díaz‐Manera

et al. 2016

Neuromuscular Disorders

View full text Add to dashboard Cite

Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic ''patchy'' replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with ''patchy'' areas of fatty replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I.In the original publication of this article, unfortunately, first word in the title was deleted; this error has now been corrected. Electronic supplementary materialThe online version of this article

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi

Tasca

Díaz‐Manera

et al. 2016

Neuromuscular Disorders

View full text Add to dashboard Cite

show abstract

“…Wykazano również pewne wzorce zajęcia mięśni w FSHD, np. charakterystyczne jest zaję-cie mięśni brzucha bądź grupy tylnej uda przy zaoszczę-dzonym mięśniu biodrowo-lędźwiowym [21]. Najnowsze techniki obrazowania bez wątpienia otwierają nowy rozdział w diagnostyce chorób neurologicznych.…”

Section: Fshd U Dzieciunclassified

Facio-scapulo-humeral dystrophy (FSHD) – the latest update

2016

View full text Add to dashboard Cite

StreSzczenieDystrofia twarzowo-łopatkowo-ramieniowa (FSHD) to trzecia co do częstości występowania dystrofia mięśniowa, dziedziczona autosomalnie dominująco. Pierwsze objawy zazwyczaj manifestują się w drugiej dekadzie życia, a bardzo wczesny początek (u dzieci przed 10. rokiem życia) wiąże się z ciężkim przebiegiem choroby, szybszym postępem niesprawności oraz większym ryzykiem powikłań. Praca ma na celu przedstawienie najważniejszych zagadnień dotyczących FSHD z punktu widzenia praktyki klinicznej -objawów, diagnostyki oraz opcji terapeutycznych, z uwzględnieniem wyników najnowszych badań, aktualnego piśmiennictwa oraz wytycznych opublikowanych przez Amerykańskie Towarzystwo Neurologiczne w 2015 roku. Słowa kluczowe: dystrofia twarzowo-łopatkowo-ramieniowa, niedosłuch, teleangiektazje siatkówkowe, niewydolność oddechowa, blok odnogi pęczka Hisa abStract Facio-scapulo-humeral dystrophy (FSHD) is a third most common muscular dystrophy of autosominal dominant pattern of inheritance. The onset of symptoms usually takes place in the second decade of life, whereas very early disease manifestation (in children below 10-year old) is linked to more severe clinical picture with quicker disability progression and higher risk of complications. This paper aims to present the most relevant issues in clinical practice concerning FSHD -symptoms, diagnostic process and therapeutic options, based on the latest publications, including evidence-based guidelines published by AAN in 2015.

show abstract

“…In most of the MRI studies conducted in FSHD patients, fat infiltration of the investigated muscles has been evaluated visually using the common ordinal scales including 4 to 5 grades [21][22][23][24][25][26]. In these studies muscles from upper limbs [21], lower limbs [22], both upper and lower limbs [23], or from the whole body have been investigated [24][25][26].…”

Section: Introductionmentioning

confidence: 99%

“…In these studies muscles from upper limbs [21], lower limbs [22], both upper and lower limbs [23], or from the whole body have been investigated [24][25][26]. Although this qualitative scoring is of interest to determine the pattern of muscle involvement, it has been largely recognized as subjective, reader-dependent and lacking sensitivity due to the limited number of grading possibilities.…”

Section: Introductionmentioning

confidence: 99%

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

Salort‐Campana

Fatehi

Troter

et al. 2017

Neuromuscular Disorders

View full text Add to dashboard Cite

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various neuromuscular disorders. The main aim of the present study was to investigate longitudinally the time-dependent changes occurring in thigh muscles of FSHD patients using quantitative MRI and to assess the potential relationships with the clinical findings. Thirty-five FSHD1 patients (17 females) were enrolled. Clinical assessment tools including manual muscle testing using medical research council score (MRC), and motor function measure (MFM) were recorded each year for a period ranging from 1 to 2 years. For the MRI measurements, we used a new quantitative index, i.e., the mean pixel intensity (MPI) calculated from the pixel-intensity distribution in T1 weighted images. The corresponding MPI scores were calculated for each thigh, for each compartment and for both thighs totally (MPI total ). The total mean pixel intensity (MPI total ) refers to the sum of each pixel signal intensity divided by the corresponding number of pixels. An increased MPI total indicates both a raised fat infiltration together with a reduced muscle volume thereby illustrating disease progression. Clinical scores did not change significantly over time whereas MPI total increased significantly from an initial averaged value of 39.6 to 41.1 with a corresponding rate of 0.62/year. While clinical scores and MPI total measured at the start of the study were significantly related, no correlation was found between the rate of MPI total and MRC sum score changes, MFM total and MFM subscores. MPI total change was 2.3% (0.5-4.3)/year and was significantly higher than the corresponding rates measured for MRCS 0% (0-1.7) /year and MFM total 0% (0-2.0) /year (p = 0.000).On the basis of these results, we suggested that muscle MRI and more particularly the MPI total index could be used as a reliable biomarker and outcome measure of disease progression. In slowly progressive myopathies such as FSHD, the MPI total index might reveal subclinical changes, which could not be evidenced using clinical scales over a short period of time.

show abstract

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

Cited by 89 publications

References 40 publications

Muscle MRI in neutral lipid storage disease (NLSD)

Muscle MRI in neutral lipid storage disease (NLSD)

Facio-scapulo-humeral dystrophy (FSHD) – the latest update

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

Contact Info

Product

Resources

About