N for Narcolepsy- Part I
Narcolepsy is a rare and chronic neurological disorder characterized by instability in sleep-wake regulation. marked by chronic excessive daytime drowsiness (EDS) and disrupted nighttime sleep. Individuals with narcolepsy experience sudden sleep attacks that may last from a few seconds to several minutes and can occur multiple times a day. The condition is thought to be […]
M For Multiple Myeloma- Part II
There is currently no cure for multiple myeloma; however, there are numerous treatment options available to effectively manage the disease, with new ones arising from time to time. The primary objective of treatment for multiple myeloma is to Induction therapy is the standard of care for newly diagnosed multiple myeloma, and it is followed by […]
M For Multiple Myeloma- Part I
Multiple Myeloma is a rare cancer that arises from plasma cells, a type of white blood cell produced in the bone marrow. These cells become malignant, proliferating uncontrollably and leading to tumor formation primarily in the bone marrow. When only a single tumor is present, the condition is called solitary plasmacytoma. When multiple tumors are […]
L for Legg-Calve-Perthes Disease- Part II
Legg-Calvé-Perthes disease (LCPD) is a pediatric hip condition characterized by interruption of the blood supply to the femoral head, leading to osteonecrosis. This condition primarily affects children between 4 and 8 years but can occur between 2 and 15 years. Various treatments, including both surgical and nonsurgical options, have been explored to manage LCPD. Despite […]
L for Legg- Calve-Perthes Disease- Part I
Legg-Calvé-Perthes Disease (LCPD) is a type of osteochondrosis affecting children, primarily between the ages of 2 and 12, with a higher incidence in those aged 5 to 6 and a greater prevalence in boys. This condition involves the degeneration and subsequent regeneration of the epiphysis, or growth end, of a bone. Specifically, LCPD impacts the […]
K for Kennedy Disease- Part II
Kennedy’s disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), first identified over two decades ago due to a mutation that expands a CAG trinucleotide repeat in the androgen receptor gene, results in an androgen receptor protein with an extended polyglutamine sequence. These disorders are characterized by protein aggregation, mitochondrial dysfunction, and transcriptional abnormalities. […]
K For Kennedy Disease- Part I
Kennedy Disease, also known as Spinal Bulbar Muscular Atrophy (SBMA), is a rare X-linked recessive genetic progressive neuromuscular disease that causes muscle weakness and wasting (atrophy) throughout the body. Symptoms typically begin to appear between the ages of 30 and 50, with life expectancy being nearly normal. Males with the inherited gene usually develop symptoms, […]
J for Juvenile CLN3 Disease- Part II
Juvenile CLN3 disease, also known as Batten disease, currently has no cure, so specialized symptom management and therapy are crucial for maintaining the quality of life for affected children, young people, and their families. Comprehensive support for parents, siblings, and extended family members is essential. Therapeutic approaches to Batten disease ranges from – Enzyme Replacement […]
J For Juvenile CLN3 Disease
Juvenile CLN3 disease, commonly known as Juvenile Batten Disease, is an extremely rare and fatal inherited disorder primarily affecting the nervous system in children. The disease is caused by mutations in the CLN3 gene, which encodes the CLN3 protein. More than sixty-seven different mutations in the CLN3 gene have been identified as responsible for Juvenile […]
I for I-Cell Disease- Part II
I-cell disease or Mucolipidosis Type II (MLII) is a devastating rare genetic disorder characterized by severe multisystemic involvement and a limited lifespan. It is a severe lysosomal storage disorder caused by mutations in the GNPTAB gene located on chromosome 12q23.2. This gene encodes the alpha and beta subunits of N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase), which plays a crucial […]
I for I-Cell Disease- Part I
I-cell disease, also known as Mucolipidosis type II, is a severe rare lysosomal storage disorder caused by mutations in the GNPTAB gene located on chromosome 12q23.2. This gene encodes the alpha and beta subunits of N-acetylglucosamine-1-phosphotransferase, which plays a critical role in processing and packaging lysosomal enzymes by tagging them with mannose-6-phosphate in the Golgi […]
H for Huntington’s Disease- Part II
Huntington’s disease (HD) is a debilitating neurodegenerative condition caused by an abnormal expansion of CAG triplets in the huntingtin (HTT) gene, leading to the progressive deterioration of GABAergic neurons in the brain’s central regions. As of now, there is no cure for HD, and treatment focuses on symptom management and improving quality of life. The […]
H for Huntington’s Disease – Part I
Huntington’s disease (HD) is a rare, inherited neurodegenerative disorder affecting the central nervous system. Characterized by involuntary movements, behavioral disturbances, and dementia, HD typically manifests between ages 30 and 50, though juvenile cases also occur. Symptoms include chorea, dystonia, cognitive decline, psychiatric issues, and difficulties with speech and swallowing. The disease leads to complete dependency […]
G for Gaucher Disease – Part II
Gaucher disease results from mutations in the GBA gene, disrupting the breakdown of glucocerebroside and causing its accumulation, leading to cellular damage. Efforts to repair this faulty “switch” have long been pursued in medical research. This disease though currently incurable, can be managed effectively with available therapies. Type 1 Gaucher patients can lead full lives, […]
G for Gaucher Disease – Part I
Gaucher disease is a rare, genetic metabolic disorder where glucocerebrosidase deficiency lead to accumulation of fat-laden “Gaucher cells” in areas like the spleen, liver and bone marrow. Gaucher cells are normal macrophages which become full of unprocessed glucocerebroside and accumulate in the organs causing dysfunction and inflammation. This is the second most severe type of […]
F for Fanconi Anemia – Part II
Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, birth defects, and a heightened risk of cancer. Symptoms typically emerge around age 7, though diagnosis may occur later when cytopenia is detected. The disorder’s average lifespan is between 20 and 30 years, with most patients developing bone marrow failure (BMF) by […]
F for Fanconi Anemia – Part I
Fanconi Anemia (FA) is a rare autosomal recessive disorder caused due to mutations in any of the known 23 genes that play a role in the DNA repair pathway. Defect in the DNA repair in all cells of the body results in accumulation of errors in these cells over time, thus making people living with […]
E for Erdheim-Chester Disease- Part II
Diagnosing Erdheim-Chester Disease (ECD), presents significant challenges due to its rarity and varied clinical presentations. Successful diagnosis typically involves integrating descriptive pathology, clinical observations, and radiographic findings. Patients often undergo multiple biopsies, leading to delays in diagnosis and treatment initiation, with the average time from symptom onset to diagnosis ranging from months to years. Determining […]
E for Erdheim-Chester Disease Part-1
Erdheim-Chester Disease (ECD) is an extremely rare multisystem adult-onset histiocytic disorder which is a type of a slow-growing blood cancer. Histiocytes are large phagocytic cells, typically tasked with combatting infections. In this disease, there is an excessive accumulation of histiocytes which infiltrate the body’s loose connective tissue, triggering inflammation and thickening of the affected areas. […]
D for Duchenne Muscular Dystrophy- Part II
One of the most prevalent forms of muscle dystrophy affecting males, Duchenne Muscular Dystrophy (DMD) is a rare progressive muscle wasting disease which leads to challenges with mobility, progressive muscle weakness, respiratory difficulties, and ultimately premature death. There have been significant strides in gene-based treatments aimed at combating DMD as summarized in Figure 1. Among […]
D for Duchenne Muscular Dystrophy-Part I
Although a rare muscle disorder, Duchenne Muscular Dystrophy (DMD) is one of the frequent genetic disorders affecting male births globally. More than 30 different muscle dystrophies are known, of which DMD is classified as Dystrophinopathy, a progressive muscle degeneration disease caused by the deficiency of Dystrophin. DMD is caused due to mutations in DMD gene […]
C For Crigler- Najjar Syndrome – Part II
Crigler-Najjar Syndrome (CNS) is often characterized by jaundice at birth leading to kernicterus in which the accumulated unconjugated bilirubin reaches the brain and affects the nervous system. With the elevated unconjugated bilirubin levels, the primary therapeutic goal is to reduce the blood bilirubin to prevent kernicterus development. Phenobarbital is often given to patients with type […]
C For Crigler-Najjar Syndrome
Crigler-Najjar Syndrome (CNS) is a rare, autosomal inherited disorder characterized by a loss or deficiency of the liver enzyme Uridine Diphosphate glucuronosyltransferase (UGT), resulting in the inability to convert and clear bilirubin from the liver. Bilirubin is an orange-yellow pigment produced by the normal breakdown of worn-out RBCs, by a process called hemolysis. To be […]
B for Beta Thalassemia – Part II
Treatment options for Beta Thalassemia involve alleviating symptoms, managing complications, and improving quality of life. The specific treatment approach depends on the type and severity of Thalassemia. Standard therapy for this disease includes repeated lifelong blood transfusions to compensate for the lack of enough functional red blood cells. Patients with transfusion-dependent Thalassemia (TDT)require transfusions every […]
B for Beta Thalassemia
Beta Thalassemia (BT) is an inherited autosomal rare recessive blood disorder caused by reduced levels of functional hemoglobin (Hb), the red iron heavy oxygen-carrying pigment of the blood. Hemoglobin is a tetramer of globin chains each bound to a heme group which is bound to iron which accommodates oxygen. The four types of globin chains […]
A for Acromegaly – Part II
On March 5th, 2024, Camurus AB, a Swedish biopharmaceutical company, announced FDA approval for the review of their New Drug Application (NDA) for OclaizTM (CAM2029) for the treatment of Acromegaly. The FDA has also set a Prescription Drug User Fee Act (PDUFA) target action date for October 21, 2024. The NDA submission is supported by […]
A for Acromegaly – Part I
Acromegaly is a rare, acquired and slowly progressive condition caused by excessive production of growth hormone (GH) by the pituitary gland, due to the presence of a “pituitary adenoma”, a benign tumor. The pituitary gland is a pea-sized endocrine gland located at the base of the skull, in charge of producing several essential hormones and […]
Care For Rare: Prologue
What are rare diseases? Being unique isn’t easy and Rare Diseases due to their low prevalence have not been an exception. In a law passed by the United States Congress in 1983 called the Orphan Drug Act, Rare Diseases are defined as conditions affecting less than 200,000 people in the United States. In contrast, the […]
Care For Rare! – Celebrating Rare Disease Day
MedNess is proudly celebrating the Rare Disease Day today. We also take this opportunity to announce a new column “*Care For Rare!*” on the MedNess platform by our newest author, Malini Gupta, PhD! We will come back tomorrow with more info on Malini, her educational background and her interest, but in the meantime, we hope […]
