fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to Schwartz-Jampel syndrome ?
Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many tissues. Perlecan is also found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.  Perlecan has multiple functions, including cell signaling and the normal maintenance of basement membranes and cartilage. The protein also plays a critical role at the neuromuscular junction, which is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle contraction.  The mutations that cause Schwartz-Jampel syndrome reduce the amount of perlecan that is produced or lead to a version of perlecan that is only partially functional. A reduction in the amount or function of this protein disrupts the normal development of cartilage and bone tissue, which underlies chondrodysplasia in affected individuals. A reduced amount of functional perlecan at the neuromuscular junction likely alters the balance of other molecules that signal when muscles should contract and when they should relax. As a result, muscle contraction is triggered continuously, leading to myotonia. + GHR + Schwartz-Jampel syndrome
Is Schwartz-Jampel syndrome inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + Schwartz-Jampel syndrome
What are the treatments for Schwartz-Jampel syndrome ?
These resources address the diagnosis or management of Schwartz-Jampel syndrome:  - Genetic Testing Registry: Schwartz Jampel syndrome type 1  - National Institute of Neurological Disorders and Stroke: Myotonia Information Page   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + Schwartz-Jampel syndrome
What is (are) Asperger syndrome ?
Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships.  People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation.  Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics.  People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights.  Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome.  Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder. + GHR + Asperger syndrome
How many people are affected by Asperger syndrome ?
The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females.  Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and the prevalence is often perceived to be rising as more people are recognized to have features of the condition. Many mildly affected individuals likely continue to be undiagnosed. + GHR + Asperger syndrome
What are the genetic changes related to Asperger syndrome ?
While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. It appears likely that a combination of genetic variations and environmental factors influence the development of this complex condition.  Asperger syndrome is a disorder of brain development. Researchers have identified differences in the structure and function of specific regions of the brain between children with Asperger syndrome and unaffected children. These differences likely arise during development before birth, when cells in the brain are migrating to their proper places.  The differences in brain development that occur in Asperger syndrome appear to affect areas of the brain involved in thought, behavior, and emotions, such as the prefrontal cortex, the amygdala, and the fusiform face area. In particular, cognitive functions called theory of mind, central coherence, and executive function are affected.  Theory of mind is the ability to understand that other people have their own ideas, emotions, and perceptions, and to empathize with them. It is related to the proper functioning of a brain mechanism called the mirror neuron system, which is normally active both when certain actions are performed and when others are observed performing the same actions. Researchers believe that the mirror neuron system is impaired in people with Asperger syndrome.  Central coherence is the ability to integrate individual perceptions into a larger context, commonly known as "seeing the big picture." For example, a person with Asperger syndrome may be able to describe individual trees in great detail without recognizing that they are part of a forest.  Executive function is the ability to plan and implement actions and develop problem-solving strategies. This function includes skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. People with deficits in these skills may have difficulty in some activities of daily living and in social interactions.  The differences in cognitive functioning observed in people with Asperger syndrome are believed to give rise to the behavioral patterns characteristic of this condition. + GHR + Asperger syndrome
Is Asperger syndrome inherited ?
Autism spectrum disorders including Asperger syndrome have a tendency to run in families, but the inheritance pattern is unknown. + GHR + Asperger syndrome
What are the treatments for Asperger syndrome ?
These resources address the diagnosis or management of Asperger syndrome:  - Genetic Testing Registry: Asperger syndrome 1  - Genetic Testing Registry: Asperger syndrome 2  - Genetic Testing Registry: Asperger syndrome 3  - Genetic Testing Registry: Asperger syndrome 4  - Genetic Testing Registry: Asperger syndrome X-linked 1  - Genetic Testing Registry: Asperger syndrome X-linked 2  - Genetic Testing Registry: Asperger's disorder  - MedlinePlus Encyclopedia: Asperger Syndrome  - National Institute of Mental Health: How is ASD treated?   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + Asperger syndrome
What is (are) mucopolysaccharidosis type IV ?
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.  The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process. The odontoid process helps stabilize the spinal bones in the neck (cervical vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical vertebrae, which may compress and damage the spinal cord, resulting in paralysis or death.  In people with MPS IV, the clear covering of the eye (cornea) typically becomes cloudy, which can cause vision loss. Some affected individuals have recurrent ear infections and hearing loss. The airway may become narrow in some people with MPS IV, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.  The life expectancy of individuals with MPS IV depends on the severity of symptoms. Severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Spinal cord compression and airway obstruction are major causes of death in people with MPS IV. + GHR + mucopolysaccharidosis type IV
How many people are affected by mucopolysaccharidosis type IV ?
The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals. + GHR + mucopolysaccharidosis type IV
What are the genetic changes related to mucopolysaccharidosis type IV ?
Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. When MPS IV is caused by mutations in the GALNS gene it is called MPS IV type A (MPS IVA), and when it is caused by mutations in the GLB1 gene it is called MPS IV type B (MPS IVB). In general, the two types of MPS IV cannot be distinguished by their signs and symptoms.  Mutations in the GALNS and GLB1 genes reduce or completely eliminate the activity of the enzymes produced from these genes. Without these enzymes, GAGs accumulate within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that break down and recycle different types of molecules. Conditions such as MPS IV that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels in many tissues and organs, particularly in the bones. The accumulation of GAGs causes the bone deformities in this disorder. Researchers believe that the buildup of GAGs may also cause the features of MPS IV by interfering with the functions of other proteins inside lysosomes and disrupting the movement of molecules inside the cell. + GHR + mucopolysaccharidosis type IV
Is mucopolysaccharidosis type IV inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + mucopolysaccharidosis type IV
What are the treatments for mucopolysaccharidosis type IV ?
These resources address the diagnosis or management of mucopolysaccharidosis type IV:  - Genetic Testing Registry: Morquio syndrome  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-B  - MedlinePlus Encyclopedia: Morquio syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + mucopolysaccharidosis type IV
What is (are) juvenile primary lateral sclerosis ?
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.  Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk. + GHR + juvenile primary lateral sclerosis
How many people are affected by juvenile primary lateral sclerosis ?
Juvenile primary lateral sclerosis is a rare disorder, with few reported cases. + GHR + juvenile primary lateral sclerosis
What are the genetic changes related to juvenile primary lateral sclerosis ?
Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and is quickly broken down, or it cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis. + GHR + juvenile primary lateral sclerosis
Is juvenile primary lateral sclerosis inherited ?
When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + juvenile primary lateral sclerosis
What are the treatments for juvenile primary lateral sclerosis ?
These resources address the diagnosis or management of juvenile primary lateral sclerosis:  - Gene Review: Gene Review: ALS2-Related Disorders  - Genetic Testing Registry: Juvenile primary lateral sclerosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + juvenile primary lateral sclerosis
How many people are affected by spinal muscular atrophy ?
Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. + GHR + spinal muscular atrophy
Is spinal muscular atrophy inherited ?
Types I, II, III, and IV spinal muscular atrophy are inherited in an autosomal recessive pattern, which means both copies of the SMN1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Extra copies of the SMN2 gene are due to a random error when making new copies of DNA (replication) in an egg or sperm cell or just after fertilization.  SMA-LED and the late-onset form of spinal muscular atrophy caused by VAPB gene mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  X-linked spinal muscular atrophy is inherited in an X-linked pattern. The UBA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. + GHR + spinal muscular atrophy
What are the treatments for spinal muscular atrophy ?
These resources address the diagnosis or management of spinal muscular atrophy:  - Gene Review: Gene Review: Spinal Muscular Atrophy  - Gene Review: Gene Review: Spinal Muscular Atrophy, X-Linked Infantile  - Genetic Testing Registry: Adult proximal spinal muscular atrophy, autosomal dominant  - Genetic Testing Registry: Arthrogryposis multiplex congenita, distal, X-linked  - Genetic Testing Registry: Kugelberg-Welander disease  - Genetic Testing Registry: Spinal muscular atrophy type 4  - Genetic Testing Registry: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant  - Genetic Testing Registry: Spinal muscular atrophy, type II  - Genetic Testing Registry: Werdnig-Hoffmann disease  - Genomics Education Programme (UK)  - MedlinePlus Encyclopedia: Spinal Muscular Atrophy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + spinal muscular atrophy
What is (are) hereditary diffuse gastric cancer ?
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones.  Symptoms of diffuse gastric cancer occur late in the disease and can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss. If the cancer metastasizes to other tissues, it may lead to an enlarged liver, yellowing of the eyes and skin (jaundice), an abnormal buildup of fluid in the abdominal cavity (ascites), firm lumps under the skin, or broken bones.  In HDGC, gastric cancer usually occurs in a person's late thirties or early forties, although it can develop anytime during adulthood. If diffuse gastric cancer is detected early, the survival rate is high; however, because this type of cancer is hidden underneath the stomach lining, it is usually not diagnosed until the cancer has become widely invasive. At that stage of the disease, the survival rate is approximately 20 percent.  Some people with HDGC have an increased risk of developing other types of cancer, such as a form of breast cancer in women that begins in the milk-producing glands (lobular breast cancer); prostate cancer; and cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. Most people with HDGC have family members who have had one of the types of cancer associated with HDGC. In some families, all the affected members have diffuse gastric cancer. In other families, some affected members have diffuse gastric cancer and others have another associated form of cancer, such as lobular breast cancer. Frequently, HDGC-related cancers develop in individuals before the age of 50. + GHR + hereditary diffuse gastric cancer
How many people are affected by hereditary diffuse gastric cancer ?
Gastric cancer is the fourth most common form of cancer worldwide, affecting 900,000 people per year. HDGC probably accounts for less than 1 percent of these cases. + GHR + hereditary diffuse gastric cancer