Nonsense mutations are genetic alterations that result in the formation of premature termination codons (PTCs), leading to truncated and nonfunctional proteins. These mutations are significant contributors to various rare diseases, with over 7000 …
Neuromuscular disorders (NMDs) are a diverse group of conditions that impair muscle function and innervation, leading to significant motor and quality of life challenges. These disorders can arise from genetic mutations, autoimmune issues, or …
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, …
Alagille Syndrome (AS) is an autosomal dominant disorder primarily affecting the liver, heart, and skeleton, caused by mutations in the JAG1 gene. With approximately 90% of cases linked to JAG1 mutations, the syndrome can lead to serious …
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 …
Joubert Syndrome (JS) is a rare neurodevelopmental disorder characterized by the molar tooth sign (MTS) observed through MRI imaging. It is classified under Joubert Syndrome and Related Disorders (JSRD), which includes various syndromes with shared …
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 …
The article “Understanding Genetic Disorders: Causes and Classifications” explains that genetic disorders stem from changes in genes or chromosomes, classified into three main types: monogenic disorders (caused by single gene mutations, …
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 …
Overgrowth syndromes are genetic disorders characterized by excessive growth, influenced significantly by mutations in the PIK3CA gene, which is part of the PI3K signaling pathway. These mutations lead to various conditions collectively known as the …
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 …
Prader-Willi Syndrome (PWS) is a genetic disorder resulting from the loss of function of genes on chromosome 15, leading to physical, cognitive, and behavioral challenges. Early signs include hypotonia and feeding difficulties in infants, while later …
Muscle twitching refers to involuntary contractions of muscles, commonly seen in areas like the eyelids, calves, and thumbs. These twitches result from the activation of motor units within the nervous system and can be triggered by factors such as …
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, …
Gaucher disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebrosides in cells, primarily affecting the spleen, liver, and bones. It is classified into three types: Type 1 …
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 …
Niemann-Pick disease (NPD) is a rare inherited metabolic disorder classified as a lipid storage disease, characterized by the body’s inability to break down fats, particularly sphingomyelin. This leads to harmful lipid accumulation in organs …
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 …
Cerebral adrenoleukodystrophy (CALD) is a severe neurological disorder primarily affecting young boys aged 4 to 8, caused by mutations in the ABCD1 gene that hinder the breakdown of very long-chain fatty acids (VLCFAs). The accumulation of VLCFAs …
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 …
