fenil210/Med-Lamma huggingface dataset:
What is (are) Merkel cell carcinoma ?
Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread. + GARD + Merkel cell carcinoma
What causes Merkel cell carcinoma ?
What causes Merkel cell carcinoma? The exact underlying cause of Merkel cell carcinoma (MCC) is unknown, but several risk factors have been associated with the development of MCC. Having one or more risk factors does not mean that a person will develop MCC; most individuals with risk factors will not develop MCC. Risk factors include:     -being over 50 years of age     -having fair skin     -having a history of extensive sun exposure (natural or artificial)     -having chronic immune suppression, such as after organ transplantation or having HIV Researchers have also found that a virus called Merkel cell polyomavirus (MCPyV) is frequently involved in the development of MCC. MCPyV is found in about 80% of tumor cells tested. This virus is thought to alter the DNA in such a way that influences tumor development. + GARD + Merkel cell carcinoma
Is Merkel cell carcinoma inherited ?
Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutations and occur during a person's lifetime, often as random events. Sometimes, something in the environment can lead to a somatic mutation, such as long-term sun exposure or infection with the Merkel cell polyomavirus. These are known risk factors for developing MCC. + GARD + Merkel cell carcinoma
What is (are) Limb-girdle muscular dystrophy, type 2C ?
Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms. + GARD + Limb-girdle muscular dystrophy, type 2C
What are the symptoms of Limb-girdle muscular dystrophy, type 2C ?
What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. 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) Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - 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 + Limb-girdle muscular dystrophy, type 2C
What are the treatments for Limb-girdle muscular dystrophy, type 2C ?
What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders + GARD + Limb-girdle muscular dystrophy, type 2C
What is (are) Non 24 hour sleep wake disorder ?
Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role. + GARD + Non 24 hour sleep wake disorder
What are the symptoms of Non 24 hour sleep wake disorder ?
What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. 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) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% 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 + Non 24 hour sleep wake disorder
What is (are) Erythromelalgia ?
Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment. + GARD + Erythromelalgia
What are the symptoms of Erythromelalgia ?
What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. 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) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - 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 + Erythromelalgia
What causes Erythromelalgia ?
What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified. + GARD + Erythromelalgia
How to diagnose Erythromelalgia ?
How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition. + GARD + Erythromelalgia
What are the treatments for Erythromelalgia ?
What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups. + GARD + Erythromelalgia
What is (are) Gigantomastia ?
Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical literature suggests that definitions range from a D-cup bra size to breast enlargement requiring reduction of over 0.8 - 2 kg, which is equivalent to about 1.75 - 4.5 pounds. The exact cause of gigantomastia has not been determined. Nonetheless, the following theories have been proposed to explain gigantomastia: (1) end-organ hypersensitivity (a condition in which the breast tissue is more sensitive to hormones circulating in the body), (2) autoimmune issues, (3) high IGF-1 (insulin growth factor-1, a hormone involved in regulating bone growth) and (4) hyperprolactanemia (high levels of prolactin). Gigantomastia has been noted as a side effect of treatment with certain medications like D-pencillamine and in one case as an apparently hereditary condition. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is may also associated with decreased fetal growth, if the gigantomastia is present during pregnancy. Treatment is based on the person's symptoms and may include breast reduction, mastectomy with or without reconstruction, hormonal treatment, or a combination of treatments. + GARD + Gigantomastia
What are the treatments for Gigantomastia ?
What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction procedure or mastectomy. Mastectomy might be recommended following recurrence of gigantomastia after breast reduction, especially in those patients who have  gigantomastia associated with puberty or pregnancy.  It is important to discuss this information with a health care provider in order to determine what treatment might be appropriate. + GARD + Gigantomastia
What is (are) Pili torti ?
Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti. + GARD + Pili torti
What are the symptoms of Pili torti ?
What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. 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) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - 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 + Pili torti
What are the treatments for Pili torti ?
Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig. + GARD + Pili torti
What are the symptoms of Pyknoachondrogenesis ?
What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. 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) Abnormal vertebral ossification 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the mouth 90% Abnormality of the sacrum 90% Depressed nasal ridge 90% Enlarged thorax 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Micromelia 90% Palpebral edema 90% Premature birth 90% Short stature 90% Short thorax 90% Thickened nuchal skin fold 90% Autosomal recessive inheritance - Stillbirth - 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 + Pyknoachondrogenesis