Rare Diseases and Cystic Fibrosis Quiz

A disorder affecting a very small number of people, typically less than 1 in 200,000.

Rare diseases are often poorly understood and diagnosed. They may have high treatment costs, leading to neglect and potentially leaving patients with limited options and feeling abandoned.

Most rare diseases are caused by genetic factors, passed down through families. A smaller percentage are caused by infections, allergies, or other environmental factors.

The age at which symptoms of rare diseases appear varies. For half of these diseases, symptoms are present at birth.

Due to the rarity of these diseases, a clear, universally accepted definition of a 'rare disease' does not exist.

Approximately 8,000 rare diseases are known, and new ones are being discovered regularly.

The 'First Catalogue of Rare Diseases in China' was published in 2018, listing 121 diseases. Another 86 rare diseases were added in 2023, with associated treatments and producers.

The majority of rare diseases lack a treatment option, presenting the biggest challenge in patient care.

A group of disorders affecting a small number of people, often with severe and long-lasting health consequences.

A type of genetic disorder where an individual must inherit two copies of a defective gene, one from each parent, to exhibit the condition.

A genetic disorder affecting the cells that line the respiratory, gastrointestinal, and reproductive tracts, leading to thick, sticky mucus buildup.

The gene responsible for cystic fibrosis, located on chromosome 7. It produces a protein called CFTR.

A protein made by the CF gene that regulates chloride channels in cells, helping control fluid balance.

Mutations in the CFTR gene disrupt chloride channels in cells, leading to thicker mucus buildup and various health issues.

Cystic Fibrosis can significantly affect the lungs, causing chronic obstructive pulmonary disease (COPD) in childhood and early adulthood.

Although once considered fatal in childhood, cystic fibrosis treatments and care have improved, allowing many individuals to live into adulthood.

A genetic disorder that primarily affects the chloride channels in the body, leading to thick and sticky mucus that can obstruct various organs.

A test that measures the chloride concentration in sweat. High levels of chloride in sweat indicate cystic fibrosis.

A type of ion channel that opens in response to the binding of a specific chemical, such as the neurotransmitter GABA.

A rare genetic disorder causing accelerated aging in children. Symptoms appear in early childhood.

A medical term indicating poor growth and development in children.

The state of being able to produce offspring.

The process of removing water from the body, often through the kidneys.

Thick and viscous fluid that can obstruct glands and ducts in the body.

Enzymes used in therapy for MPS disorders cannot cross the blood-brain barrier, meaning they cannot directly reach and treat the brain.

Hematopoietic stem cell transplantation (HSCT) significantly improves the physical symptoms of MPS I, II, and VI, but it does not reverse existing brain damage or other physical abnormalities.

Even though enzyme replacement therapy normalizes enzyme activity in the blood and reduces GAG buildup in the urine, it doesn't prevent the brain from deteriorating.

Primary prevention of MPS is through genetic counseling, while tertiary prevention focuses on managing complications and improving quality of life.

The progressive nature of MPS requires specialized and coordinated care to monitor and address the multifaceted challenges faced by patients.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that causes accelerated aging in children. It's characterized by features appearing in early childhood, including rapid aging, hair loss, wrinkled skin, and cardiovascular problems.

While there is no known cure for HGPS, the average lifespan for those with the condition is about 13 years, with a range of 7 to 27 years. Around 90% of cases result in death from complications related to atherosclerosis, such as heart attacks or strokes.

The LMNA gene, which is located on chromosome 1q22, is responsible for HGPS. Mutations in this gene disrupt its function, leading to the syndrome's characteristic accelerated aging.

HGPS is typically not inherited from parents. The genetic change is usually a spontaneous occurrence that is very rare. However, despite this, the mode of inheritance is considered 'sporadic autosomal dominant'.

Children with Prader-Willi syndrome (PWS) display a loss of muscle tone and general weakness in the first months of life, especially during their first two months. This can cause difficulty feeding, leading to low weight and slow growth.

Prader-Willi syndrome (PWS), a genetic disorder characterized by a variety of symptoms affecting physical development, behavior, and cognition, is caused by a deletion or inactivation of genes on chromosome 15. This deletion typically occurs on the paternal chromosome, meaning it was inherited from the father.

One of the most striking physical features of Prader-Willi syndrome is the insatiable appetite that develops in affected individuals. This relentless hunger can lead to excessive eating and ultimately, obesity if it isn't managed carefully.

Prader-Willi syndrome (PWS) affects various aspects of development. While most children with PWS have a normal life expectancy, they may experience challenges related to obesity, learning disabilities, and behavioral issues. Understanding these challenges is crucial to providing proper care and support for individuals with PWS.

Glycosaminoglycans (GAGs) are complex sugar molecules that bind to proteins to form proteoglycans. They play a vital role in many physiological processes, including protein function, cellular adhesion, and signaling.

Proteoglycans are molecules made up of a protein core attached to GAGs. They are essential for maintaining the structure and function of various tissues, especially cartilage and connective tissues.

Mucopolysaccharidoses (MPS) are a group of genetic disorders caused by a deficiency in enzymes responsible for breaking down GAGs. This leads to the accumulation of GAGs in various tissues and organs, causing a wide range of symptoms.

In MPS, defective lysosomal enzymes fail to break down GAGs properly. This leads to their buildup within lysosomes, disrupting cellular function.

Distended lysosomes, filled with accumulated GAGs, impair normal cellular function in MPS disorders.

MPS disorders are characterized by a distinctive pattern of clinical, radiological, and biochemical abnormalities. These include skeletal abnormalities, organomegaly, cognitive impairment, and distinctive facial features.

"Enzyme replacement therapy" involves providing patients with the missing enzyme to help break down accumulated GAGs. It offers potential benefits like reduced organomegaly and improved physical function.

Hematopoietic stem cell transplantation (HSCT) is a more invasive treatment option that involves replacing defective stem cells with healthy ones, which can produce the missing enzyme to break down GAGs.

MPS I (Hurler Syndrome) is characterized by coarse facial features, hepatosplenomegaly, corneal clouding, and cognitive decline. It is often associated with severe skeletal and neurological complications.

MPS II (Hunter Syndrome) shares some features with Hurler syndrome but is X-linked recessive. It often presents with milder neurological involvement but may affect bone growth and development.

A genetic disorder affecting the dystrophin gene, causing progressive muscle weakness primarily in males due to the X-linked recessive nature of the disorder.

The largest gene on the human X chromosome, responsible for producing the dystrophin protein, a crucial component of muscle fibers.

A protein crucial for muscle strength and function. It acts like a bridge connecting the muscle's internal structure with the surrounding tissues.

A genetic inheritance pattern where the defective gene is located on the X chromosome. Females usually carry the gene but don't exhibit symptoms, while males inherit the disorder.

A condition affecting the cytoskeleton, causing disruption of the structural protein network within muscle cells, leading to progressive muscle weakness.

Muscle fibers repeatedly break down and fail to regenerate properly due to the lack of dystrophin, causing progressive muscle damage.

A type of muscle disorder characterized by progressive weakness and degeneration caused by various genetic defects.

A specific type of muscular dystrophy, the most severe and common form, caused by defects in the dystrophin gene.

A condition where muscle fibers are destroyed and replaced with fat and connective tissue.

A test used to diagnose muscular dystrophies by measuring the level of creatine kinase (CK) in the blood. Elevated CK levels indicate muscle breakdown.

A diagnostic tool used to assess muscle and nerve function. It measures electrical activity within the muscles and nerves. It can be used to distinguish between muscular and neurological disorders.

This study is used to measure the speed of nerve impulses, helping to identify nerve damage or other neurological conditions. These studies are useful in the diagnosis of muscular dystrophies because they can help to differentiate between muscular and neurological causes of muscle weakness.

The most reliable test for diagnosing muscular dystrophies, it involves taking a small sample of muscle tissue for microscopic examination.

Leigh syndrome, also known as Leigh's disease, is a rare, neurometabolic disorder that primarily affects the central nervous system.

The most common type of Leigh syndrome, appearing before the age of 2. It causes severe neurological damage.

Mutations in mitochondrial DNA or a deficiency in pyruvate dehydrogenase, an enzyme crucial for energy production, are the main causes of Leigh syndrome.

Early symptoms include loss of sucking ability, head control, and motor skills. Later symptoms involve muscle weakness, loss of muscle mass, and lactic acidosis.

Leigh syndrome is a progressive disorder, meaning symptoms worsen over time. While there is no cure, treatments aim to manage symptoms and provide supportive care.

A pattern observed in electromyography (EMG) of muscles affected by Duchenne Muscular Dystrophy (DMD), characterized by decreased amplitude, shortened duration, and polyphasic motor unit potentials.

A method used to detect carriers of DMD by examining the DNA for specific deletions or duplications of the dystrophin gene, providing more accurate results than CPK testing alone

A test used to detect carriers of DMD in cases where no deletion or duplication has been identified in the affected male. It involves looking for a mosaic pattern in muscle biopsy, where some muscle fibers are normal and some are abnormal due to missing or altered dystrophin

A common treatment for DMD that involves using corticosteroids like prednisone. It can improve muscle strength, slow down weakness progression, prevent scoliosis, and prolong walking ability. However, it comes with potential side effects.

A rare genetic disorder that affects the central nervous system, leading to brain and spinal cord damage. Symptoms typically appear in infancy and can cause developmental delay, seizures, and movement difficulties

Increased fibrosis, necrosis, and fat deposition within muscle fibers, accompanied by a predominance of type I muscle fibers and absence of dystrophin protein. This is observed in muscle biopsies of individuals with Duchenne Muscular Dystrophy (DMD).

A rare disorder characterized by early-onset diabetes mellitus, multiple epiphyseal dysplasia, and liver dysfunction, all stemming from ER dysfunction.

A gene responsible for regulating protein production in response to ER stress. Mutations in EIF2AK3 lead to Wolcott-Rallison syndrome.

A complex cellular process involved in the proper folding of proteins in the ER. Impaired UPR leads to accumulation of misfolded proteins, causing ER stress.

A metabolic disorder that affects the brain, especially the brainstem, and can lead to respiratory failure.

A clinical trial using high dose biotin and thiamine, recommended for newly diagnosed patients with Leigh syndrome to check for possible responsiveness.

A dietary approach for patients with Leigh syndrome, especially those with pyruvate dehydrogenase deficiency, to help manage energy production.

A type of treatment involving providing patients with the missing enzyme to break down accumulated GAGs, offering potential benefits for some MPS disorders.

A more invasive treatment for MPS that involves replacing defective stem cells with healthy ones, which can produce the missing enzyme.

Apoptosis is a process of programmed cell death that is initiated by various stimuli, including the accumulation of misfolded proteins and ER stress. In Wolcott-Rallison syndrome, prolonged ER stress can lead to increased apoptosis, contributing to the disease's effects.

Wolcott-Rallison syndrome can disrupt lipid metabolism regulation, affecting insulin signaling and glucose homeostasis. This contributes to the development of early-onset diabetes mellitus, a key characteristic of the disorder.

The accumulation of misfolded proteins and the failure to properly manage ER stress in Wolcott-Rallison syndrome can lead to cellular toxicity. This contributes to the overall dysfunction and damage observed in various tissues.