FSHDFacioscapulohumeral Muscular Dystrophy
FSHDFamily Studies and Human Development (degree program)
FSHDFlorida State Health Department
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References in periodicals archive ?
In August 2019, Fulcrum announced that it initiated ReDUX4, its Phase 2b clinical trial evaluating losmapimod for the treatment of FSHD.
Losmapimod is a foundational clinical asset for Fulcrum that has the potential to become the first approved therapy that targets the root cause of FSHD.
During 2018, the FDA granted Fast Track designation for ACE-083 in CMT as well as Fast Track and Orphan Drug designations for ACE-083 for the treatment of patients with FSHD.
Facioscapulohumeral muscular dystrophy (FSHD, OMIM 158900) accounts for one of the most frequent adult-onset muscular dystrophies, which has an estimated prevalence of 1:20,000.
Facial muscular involvement characterized by progressive hypotrophy and hyposthenia is associated with muscle decontraction, difficulties and muscle weakness, thus leading to an expression-less face.27 Facial weakness is often the earliest obvious clinical feature in FSHD that shows the facial muscle involvement thus leading to reduced facial expression.28 Asymmetric face followed by lower extremity muscle weakness is classically seen FSHD.29 The similar feature also reported in our case.
FSHD is the result of an epigenetic mechanism which results in disturbances to the transcriptional control of multiple genes [16].
For instance, we can make use of the Human Disease Ontology [38] term has_symptom to establish the connection between a Facioscapulohumeral Muscular Dystrophy (FSHD) patient and the identified symptoms: coeus:Patient_X doid:has_symptom obo:HP.0001324 (i.e., muscle weakness.).
To our knowledge, no therapeutic options have been suggested for patients with FSHD. We used Filgastrim analog G-CSF as therapy for the weakness in the muscles of a 15-year-old boy with FSHD.
In a published study, scientists from Genea Biocells analyzed in detail cellular and molecular aspects of facioscapulohumeral muscular dystrophy (FSHD) during myogenic development and in myotube cultures by comparing muscle cells generated from five FSHD-affected and four normal control stem cell lines.
The findings highlight a scalable monolayer system to differentiate human pluripotent stem cells into skeletal muscle cells and demonstrate diseasespecific phenotypes in muscle derived from both human embryonic and induced pluripotent stem cells affected with FSHD.
This event is inspired by the recent creation of SOMA Pilipinas, the Filipino Social Heritage Special Use District (FSHD) located in the South of Market (SoMa) area of San Francisco.
The previous visit of HRPP officials to FSHD lasted two full days, where a team of inspectors assessed records, academic qualifications and professional expertise at the center.