scholarly journals Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

2017 ◽  
Vol 7 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Yingyin Liang ◽  
Guidian Li ◽  
Songlin Chen ◽  
Rongxing He ◽  
Xiangxue  Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Muscle Mri ◽  
One Year

MRI findings in Fukuyama congenital muscular dystrophy: a rare case report

2012 ◽  
Vol 112 (4) ◽  
pp. 401-403
Author(s):  
Ravi Kanth Jakkani ◽  
Jyoti Sureka ◽  
S. Shyam ◽  
Sunithi Mani
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Rare Case ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Rare Case Report

scholarly journals Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy

Medicina ◽  
2021 ◽  
Vol 57 (11) ◽  
pp. 1267
Author(s):  
Claudia Brogna ◽  
Lara Cristiano ◽  
Tommaso Verdolotti ◽  
Giulia Norcia ◽  
Luana Ficociello ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Resonance Imaging ◽  
Muscle Mri ◽  
Functional Changes ◽  
One Year ◽  
Age Range

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.

Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report

2016 ◽  
Vol 23 (3) ◽  
pp. 173
Author(s):  
Young Mi Han ◽  
Na Rae Lee ◽  
Mi Hye Bae ◽  
Kyung Hee Park ◽  
Jin Hong Shin ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy

G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

2012 ◽  
Vol 22 (9-10) ◽  
pp. 829-830
Author(s):  
L. Mrazova ◽  
P. Vondracek ◽  
H. Buckova ◽  
L. Fajkusova ◽  
M. Hermanova ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Epidermolysis Bullosa ◽  
Congenital Muscular Dystrophy

A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: A case report

2009 ◽  
Vol 63 (2) ◽  
pp. 155-159 ◽  
Author(s):  
Hiromu Mishima ◽  
Hisao Hirata ◽  
Hideyuki Ono ◽  
Kanji Choshi ◽  
Yoshikazu Nishi ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Gyrate Atrophy

Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

2002 ◽  
Vol 106 (2) ◽  
pp. 117-121 ◽  
Author(s):  
E. Zanoteli ◽  
J. C. C. Rocha ◽  
L. K. Narumia ◽  
M. A. T. Fireman ◽  
L. S. Moura ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Japanese Population ◽  
Congenital Muscular Dystrophy

Myopathy, Unique Clinical Features, and Brain Malformations Mimicking Fukuyama Congenital Muscular Dystrophy: A Case Report

1993 ◽  
Vol 13 (4) ◽  
pp. 253-258 ◽  
Author(s):  
Hiroshi Nakayama ◽  
Susumu Ando ◽  
Hideaki Tomi ◽  
Nobuhiko Sunohara ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Congenital Muscular Dystrophy ◽  
Brain Malformations

scholarly journals New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

2020 ◽  
Vol 41 (6) ◽  
pp. 1094-1098
Author(s):  
A. Hirasawa-Inoue ◽  
N. Sato ◽  
Y. Shigemoto ◽  
Y. Kimura ◽  
A. Ishiyama ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Brain Stem ◽  
Congenital Muscular Dystrophy ◽  
Venous System ◽  
Mri Findings

MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report

2000 ◽  
Vol 43 (5) ◽  
pp. 629
Author(s):  
Jeonghyun Yoo ◽  
Yookyung Kim ◽  
Haesoo Koo ◽  
Ki Deuk Park
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Mr Imaging ◽  
Congenital Muscular Dystrophy
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