Javascript must be enabled to continue!
Facioscapulohumeral Muscular Dystrophy: Genetics and Trials
View through CrossRef
A complex combination of molecular pathways and cell interactions causes facioscapulohumeral muscular dystrophy (FSHD). Several new therapies pose a promising solution to this disease with no cure. This chapter aims to explain the genetics of facioscapulohumeral muscular dystrophy, and review the current clinical trials for the treatment of FSHD.
Title: Facioscapulohumeral Muscular Dystrophy: Genetics and Trials
Description:
A complex combination of molecular pathways and cell interactions causes facioscapulohumeral muscular dystrophy (FSHD).
Several new therapies pose a promising solution to this disease with no cure.
This chapter aims to explain the genetics of facioscapulohumeral muscular dystrophy, and review the current clinical trials for the treatment of FSHD.
Related Results
Clinico-pathological Diagnosis of Facioscapulohumeral Dystrophy in a 22-year-old Male
Clinico-pathological Diagnosis of Facioscapulohumeral Dystrophy in a 22-year-old Male
Background: Facioscapulohumeral dystrophy (FSHD) is a rare hereditary disease with a prevalence of 2.03–6.8 per 100,000 individuals. FSHD is the third most common type of muscular ...
Advanced Physiotherapy Intervention for Muscular Dystrophy
Advanced Physiotherapy Intervention for Muscular Dystrophy
Muscular dystrophies are rare neuromuscular conditions which are genetically and clinically diverse that cause gradual, progressive weakness and breakdown of skeletal muscles over ...
Duchene’s muscular dystrophy: a clinical case
Duchene’s muscular dystrophy: a clinical case
Background. Muscular dystrophy is a heterogeneous group of genetic disorders characterized by progressive loss of skeletal muscles. Duchene's muscular dystrophy (MDD) is one of the...
An Automated Identification of Muscular Atrophy and Muscular Dystrophy Disease in Fetus using Deep Learning Approach
An Automated Identification of Muscular Atrophy and Muscular Dystrophy Disease in Fetus using Deep Learning Approach
Muscular Atrophy (MA) and Muscular dystrophy (MD) diseases are genetic diseases. These diseases are commonly diagnosed with the help of techniques such as chorionic villus sampling...
Respiratory care in muscular dystrophy
Respiratory care in muscular dystrophy
Abstract
Respiratory problems are a major cause of morbidity and mortality in the muscular dystrophies. Indeed, in Duchenne muscular dystrophy (DMD) respiratory comp...
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy
Abstract
A novel canine muscular dystrophy in Landseer dogs was observed. We had access to five affected dogs from two litters. The clinical signs started at a few w...
Role of Growth Factors and Apoptosis Proteins in Cognitive Disorder Development in Patients with Duchenne Muscular Dystrophy
Role of Growth Factors and Apoptosis Proteins in Cognitive Disorder Development in Patients with Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease; it occurs due to a mutation in the dystrophin protein gene; as a result, the protein is not synthesized an...
The MRL Mitochondrial Genome Decreases Murine Muscular Dystrophy Severity
The MRL Mitochondrial Genome Decreases Murine Muscular Dystrophy Severity
It is well known that muscular dystrophy disease severity is controlled by genetic modifiers. The expectation is that by identifying these modifiers, we can illuminate additional t...

