fenil210/Med-Lamma huggingface dataset:
What is (are) Hereditary cerebral hemorrhage with amyloidosis ?
Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins).  Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients.  The majority of CAA cases occur in individuals who do not have a family history. However, two familial forms of CAA have been identified. + GARD + Hereditary cerebral hemorrhage with amyloidosis
What are the symptoms of Hereditary cerebral hemorrhage with amyloidosis ?
What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs between the ages of 45 and 65 years, and is not caused by hypertension or hemorrhagic diathesis (bleeding tendency). Nausea, vomiting, progressive headache, focal neurological signs (double or decreased vision, speech difficulties, confusion, delirium, weakness or paralysis, sensation changes or loss of sensation, progressive intellectual deterioration and memory disturbance) and impairment of consciousness are the most frequent signs and symptoms. Psychiatric abnormalities, including dementia are also common, with some patients developing dementia without intracranial hemorrhage. + GARD + Hereditary cerebral hemorrhage with amyloidosis
What causes Hereditary cerebral hemorrhage with amyloidosis ?
What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. The symptoms occur because bleeding in the brain harms brain tissue. Hereditary cerebral hemorrhage with amyloidosis-Dutch type is an autosomal dominant disorder with complete penetrance (all individuals who inherit the mutated gene will develop the condition). The likely genetic defect is in the amyloid protein precursor protein (APP) gene on chromosome 21. + GARD + Hereditary cerebral hemorrhage with amyloidosis
Is Hereditary cerebral hemorrhage with amyloidosis inherited ?
Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical and family history in order to provide you with your specific risks. To learn more about genetic consultations, click here. + GARD + Hereditary cerebral hemorrhage with amyloidosis
What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ?
How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications. + GARD + Hereditary cerebral hemorrhage with amyloidosis
What is (are) Diffuse idiopathic skeletal hyperostosis ?
Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper back; however, other symptoms may also develop when bone spurs press on nearby organs or parts of the body. The exact underlying cause of DISH remains unknown, although risk factors such as age, gender, long-term use of certain medications and chronic health conditions have been identified. Treatment for DISH depends on many factors including the signs and symptoms present in each person and the severity of the condition. + GARD + Diffuse idiopathic skeletal hyperostosis
What are the symptoms of Diffuse idiopathic skeletal hyperostosis ?
What are the signs and symptoms of Diffuse idiopathic skeletal hyperostosis? Many people affected by diffuse idiopathic skeletal hyperostosis (DISH) have no signs or symptoms of the condition. When present, symptoms vary but many include: Stiffness which is most noticeable in the morning Pain when pressure is applied to the affected area Loss of range of motion Difficulty swallowing or a hoarse voice Tingling, numbness, and/or weakness in the legs The upper portion of the back (thoracic spine) is the most commonly affected site; however, people with DISH may also experience symptoms in other places such as the heels, ankles, knees, hips, shoulders, elbows, and/or hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse idiopathic skeletal hyperostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Diffuse idiopathic skeletal hyperostosis
What causes Diffuse idiopathic skeletal hyperostosis ?
What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as diabetes mellitus, acromegaly, or certain inherited connective tissue disorders) may lead to DISH. Long-term use of medications called retinoids (such as isotretinoin) can increase the risk for DISH. Age (being older than age 50) and sex (being male) may also play a role. + GARD + Diffuse idiopathic skeletal hyperostosis
How to diagnose Diffuse idiopathic skeletal hyperostosis ?
How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features. + GARD + Diffuse idiopathic skeletal hyperostosis
What are the treatments for Diffuse idiopathic skeletal hyperostosis ?
How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin, others). Affected people with severe pain may be treated with corticosteroid injections. Physical therapy and/or exercise may reduce the stiffness associated with DISH and can help increase range of motion in the joints. In rare cases, surgery may be necessary if severe complications develop. For example, people who experience difficulty swallowing may need surgery to remove the bone spurs in the neck. How might severe diffuse idiopathic skeletal hyperostosis (DISH) be treated? Although diffuse idiopathic skeletal hyperostosis (DISH) affects 25% of men and 15% of women over the age of 50 years old, many affected people do not have symptoms. However some people with DISH have stiffness and pain, most commonly in the spinal region or back.  In rare cases the joint stiffness and pain is severe and the areas of the spine affected by DISH may have very limited movement. Knees, hips, hands and other joints may also be affected, more commonly in the more severe cases. Therapy for DISH is based on symptoms. In general, physical therapy, analgesics, sedation, anti-inflammatory drugs, and muscle relaxants have all been successful in managing the majority of patients with DISH. Even though few studies have focused on indications for surgery, it is generally accepted that surgery is indicated for patients with severe symptoms (such as airway obstruction and/or dysphagia) in whom conservative approach has failed. + GARD + Diffuse idiopathic skeletal hyperostosis
What is (are) Nuclear Gene-Encoded Leigh Syndrome ?
Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present. + GARD + Nuclear Gene-Encoded Leigh Syndrome
What are the symptoms of Metaphyseal chondrodysplasia Spahr type ?
What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu varum 90% Hyperlordosis 90% Reduced bone mineral density 90% Short stature 90% Abnormality of epiphysis morphology 50% Carious teeth 50% Scoliosis 50% Abnormality of the head - Autosomal recessive inheritance - Disproportionate short stature - Genu valgum - Metaphyseal chondrodysplasia - Metaphyseal sclerosis - Metaphyseal widening - Motor delay - Progressive leg bowing - Short lower limbs - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Metaphyseal chondrodysplasia Spahr type
What are the symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia ?
What are the signs and symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Multicystic kidney dysplasia 90% Abnormality of the liver 50% Abnormality of the pancreas 50% Aplasia/Hypoplasia of the lungs 50% Intestinal malrotation 50% Oligohydramnios 50% Polyhydramnios 50% Bile duct proliferation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
What is (are) Cor triatriatum ?
Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra chamber above the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum). The presence of this extra atrial chamber can cause slowed passage of the blood from the lungs to the heart and, over time, lead to features of congestive heart failure and obstruction. In children, cor triatriatum may be associated with major congenital cardiac problems. In adults, it is often an isolated finding. Treatment depends upon the symptoms present and may include medical or surgical approaches. + GARD + Cor triatriatum
What is (are) Chondrocalcinosis 2 ?
Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experience chronic joint pain or sudden, recurrent episodes of pain, stiffness and/or swelling of the joints. Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years). It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner. There is no cure for the condition and treatment is symptomatic. + GARD + Chondrocalcinosis 2
What are the symptoms of Chondrocalcinosis 2 ?
What are the signs and symptoms of Chondrocalcinosis 2? The signs and symptoms of chondrocalcinosis 2 vary from person to person. Some affected people may not have any symptoms of the condition aside from the appearance of calcium deposits on joint x-rays. Others experience chronic pain in affected joints and/or the back if calcium deposits develop around the bones of the spine. Chondrocalcinosis 2 can also be associated with sudden, recurrent episodes of joint pain, stiffness and/or swelling that can last anywhere from several hours to several weeks. These episodes can lead to limited range of motion in the affected joint or even ankylosis (fixation of joint in place). Although almost any joint in the body can be affected, symptoms are often confined to a single knee, wrist, hip or shoulder. The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the intervertebral disk 90% Arthralgia 90% Calcification of cartilage 90% Joint swelling 90% Osteoarthritis 50% Abnormal tendon morphology 7.5% Chondrocalcinosis 7.5% Joint dislocation 7.5% Limitation of joint mobility 7.5% Seizures 7.5% Adult onset - Arthropathy - Autosomal dominant inheritance - Polyarticular chondrocalcinosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Chondrocalcinosis 2
What causes Chondrocalcinosis 2 ?
What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to accumulate in the cartilage of joints. The buildup of these crystals weakens cartilage and causes it to break down more easily. This leads to the many signs and symptoms associated with chondrocalcinosis 2. + GARD + Chondrocalcinosis 2
Is Chondrocalcinosis 2 inherited ?
Is chondrocalcinosis 2 inherited? Chondrocalcinosis 2 is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with chondrocalcinosis 2 has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Chondrocalcinosis 2
How to diagnose Chondrocalcinosis 2 ?
How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determine if calcium pyrophosphate dihydrate crystals are present. In most cases, x-rays can be used to identify calcium deposits in the cartilage of joints. + GARD + Chondrocalcinosis 2
What are the treatments for Chondrocalcinosis 2 ?
How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptoms of the condition. During episodes of joint pain, stiffness, and/or swelling, the following treatments may be recommended to relieve symptoms: joint aspiration (draining of fluid from the affected joint), corticosteroids injections, and/or nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or ibuprofen. Small doses of a medication called colchicine or NSAIDS are sometimes prescribed to people with frequent and severe attacks in an attempt to prevent future episodes; however, this therapy is not effective in all cases. + GARD + Chondrocalcinosis 2
What are the symptoms of Hirschsprung disease type d brachydactyly ?
What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Aplastic/hypoplastic toenail 90% Abnormality of the hallux 50% Anonychia 50% Brachydactyly syndrome 50% Short toe 50% Short thumb - Type D brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Hirschsprung disease type d brachydactyly