Results 81 to 90 of about 365 (121)

Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology

European Journal of Histochemistry, 2009
Over the past two centuries, myology (i.e. the basic and clinical science of muscle and muscle disease) has passed through 3 stages of development: the classical period, the modern stage and the molecular era.
G Meola
doaj   +1 more source

Creatine Phosphokinase in Facioscapulohumeral Muscular Dystrophy [PDF]

BMJ, 1971
Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.
openaire   +2 more sources

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

Open Medicine
Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert, Atiya Monika, Göhner Katja, Hortobagyi Tibor, Burkhardt Tobias, Schreiner Bettina   +5 more
doaj   +1 more source

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy

Case Reports in Neurological Medicine, 2012
A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of ...
Dominic B. Fee
doaj   +1 more source

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic

Molecular Therapy: Methods & Clinical Development
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +1 more source

[Facioscapulohumeral muscular dystrophy]. [PDF]

Nederlands tijdschrift voor tandheelkunde, 2010
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4.
Wilbers, J., Frants, R.R., Engelen, B.G.M. van, Padberg, G.W.A.M., Maarel, S.M. van der   +4 more
openaire   +2 more sources

Advances in imaging of brain abnormalities in neuromuscular disease

Therapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

A Case of Facioscapulohumeral Muscular Dystrophy

International Journal of Medical Students
Background: Facioscapulohumeral muscular dystrophy (FSHMD) is a genetically determined, progressive skeletal muscle disorder characterized by a distinctive pattern of muscle involvement, variable clinical severity, and significant diagnostic challenges.
Neha Sahota, Shubreet Randhawa
doaj  

Effectiveness of exercise therapy on motor functions among individuals with facioscapulohumeral muscular dystrophy: a systematic review

Revista Pesquisa em Fisioterapia
| INTRODUCTION: Facioscapulohumeral muscular dystrophy (FSHD) is prevalent innate autosomal dominant form of muscular dystrophy (MD) involving asymmetrical progression of muscle weakness.
Angel Gupta, Deeksha Sharma, Sarita Khadyat, Arushi Mishra, Ankit Kumar   +4 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

Frontiers in Genetics
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns.
Menglin Tan, Huiyi Huo, Jieming Feng, Chandi Wang, Suhua Jiang   +4 more
doaj   +1 more source