Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX...

Multivoxel magnetic resonance spectroscopy of brain tumors.

Magnetic resonance spectroscopy (MRS) is becoming more widely available for clinical applications and is able to provide information about the metabolic properties of regions of normal and abnormal tissue morphology. A critical question for the clinical management of patients with brain tumors is whether multivoxel MRS is able to add new information to the high-quality anatomical data provided ...

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found be...

Early onset facioscapulohumeral muscular dystrophy.

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...

Multivoxel proton magnetic resonance spectroscopy detects thalamic neurochemical metabolic changes in patients with major depressive disorder