Duchenne Muscular Dystrophy (DMD) is a severe muscle disorder primarily affecting boys, caused by mutations in the dystrophin gene, leading to muscle degeneration and loss of mobility by the teenage years. While there is no cure for DMD, …
The article provides an overview of genetic disorders, highlighting their significant prevalence and impact on individuals’ health, mental wellbeing, and quality of life. It discusses specific genetic disorders such as Prader-Willi Syndrome …
The article discusses the comprehensive multidisciplinary approach necessary for managing Dubowitz syndrome, which involves a team of specialists including pediatricians, geneticists, plastic surgeons, nutritionists, speech therapists, and …
This comprehensive review explores Jeune asphyxiating thoracic dystrophy (JATD), a rare skeletal dysplasia primarily marked by a narrow bell-shaped chest, short limbs, and frequently digital anomalies, and its strong genetic association with …
Dubowitz syndrome (DubS) is a rare genetic disorder first described in 1965, characterized by distinctive facial features, intellectual disabilities, and various systemic health issues, with a prevalence of approximately one in 125,000 to one in one …
Genetic testing, or DNA testing, analyzes an individual’s genetic material to identify mutations that may lead to genetic disorders. It involves collecting samples from blood, saliva, or tissue and categorizes into molecular tests, chromosomal …
Muscular dystrophy (MD) is a genetic muscle disorder categorized as a myopathy, resulting from mutations that disrupt protein production essential for maintaining healthy muscle fibers. This leads to muscle weakness and atrophy, severely impacting …
The article “Understanding Muscular Dystrophy: Types, Symptoms, and Challenges” discusses muscular dystrophy, a group of over 30 genetic disorders leading to progressive muscle weakness and dysfunction due to genetic abnormalities. Key …
Vyondys 53, or golodirsen, is a targeted therapy for Duchenne Muscular Dystrophy (DMD), a genetic disorder leading to muscle degeneration due to mutations in the dystrophin gene. It employs “exon skipping” to produce a functional …
Zolgensma (onasemnogene abeparvovec-xioi) is a groundbreaking gene therapy for spinal muscular atrophy (SMA), primarily effective for infants and young children under two years old. This one-time intravenous (IV) infusion therapy delivers a …
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder caused by a mutation in the IDS gene on the X chromosome, leading to a deficiency of the enzyme iduronate 2-sulfatase. This results in the accumulation of …
Prader-Willi Syndrome (PWS) is a genetic disorder caused by the loss of function of specific genes on chromosome 15, typically inherited from the father. It presents with symptoms such as hypotonia, delayed milestones, distinctive facial features, …
Viltepso is an injectable medication for subcutaneous administration, particularly beneficial for individuals with Duchenne Muscular Dystrophy (DMD) who struggle with oral medications. It operates by bypassing the mutated section of the dystrophin …
Exondys 51 is an intravenous medication used to treat Duchenne muscular dystrophy (DMD) in patients with specific mutations in the dystrophin gene. The typical dosage is calculated at 30 mg/kg of body weight, administered weekly. A dosing table …
X-Linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder primarily affecting males, caused by mutations in the ABCD1 gene on the X chromosome. This condition leads to the accumulation of very long-chain fatty acids (VLCFAs), resulting in …
Spinal muscular atrophy (SMA) is a genetic disorder characterized by the degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness. It is caused by mutations in the SMN1 gene, with severity linked to the SMN2 gene copy …
Menkes disease, or kinky hair disease, is a rare genetic disorder caused by mutations in the ATP7A gene that disrupt copper metabolism, leading to severe neurological damage and developmental delays in affected children. Symptoms typically appear …
Gene therapy is a revolutionary medical approach that modifies an individual’s genetic material to prevent and treat diseases by addressing their underlying causes. It involves methods such as gene addition, silencing, and editing. A notable …
