Lhermitte-Duklos disease - a genetic abnormality that leads to the development of slow-growing tumor of the cerebellum, which can occur at any age of the patient. The main manifestations of the disease, in addition to the symptoms of lesions of the cerebellum are also hydro and megalotsefaliya, malformations of the skeleton development and gingival hyperplasia. Diagnosis is made based on the study of the brain (CT, MRI) and neurological symptoms, as well as genetic studies. No specific treatment of the disease Lhermitte-Duklos does not exist, but timely surgical removal of the tumor can significantly extend the life of the patient.
Machado-Joseph disease - genetically caused spinocerebellar ataxia clinically presented polymorphic combinations of cerebellar syndrome with manifestations of secondary parkinsonism, hyperkinesis, pyramidal disorders in the form of spastic paralysis and ophthalmoplegia, amyotrophy. Diagnosis is based on a careful study of the clinical manifestations of the patient and his family, genealogical analysis, MRI and CT data, identifying the study of DNA exceeds the rate of the number of copies of the triplet CAG. Treatment is symptomatic. Prognosis is poor.
Menetrier's disease is a rare disease of the stomach, which manifests a pronounced thickening of the gastric mucosa, glands change, with the folds is thicker than 2.3 cm. The etiology of this disease has not been established. For the purpose of diagnostics performed a detailed study of the patient's complaints, identifying hypoalbuminemia, specific signs during the X-ray of the stomach and fibrogastroscopy. Treatment involves the use of binders, coating agents, surgical treatment is carried out in case of complicated shapes. Giant hypertrophic gastritis may exist for a long time, for decades, in some cases, there is regression of the pathology in a simple atrophic gastritis. In such cases, the prognosis is favorable.
Meniere's Disease - a disease of the inner ear noninflammatory nature, manifested recurrent attacks labyrinth vertigo, noise in the affected ear and progressive hearing loss. List of diagnostic measures in Meniere's disease involves otoscopy, the study of the auditory analyzer (audiometry, electrocochleography, acoustic impedancemetry, promontorialny test, otoacoustic emission) and vestibular function (vestibulometriya, stabilography, indirect otolitometriya, electronystagmography), brain MRI, EEG, ECHO-EG REG, Doppler ultrasound of brain vessels. Treatment of Meniere's disease is a complex drug therapy, with its inefficiency resort to surgical treatments, Hearing Care Professional.
Mikulicz's disease - a rare chronic disease characterized by symmetric increase of the salivary and lacrimal glands. Among the possible etiologic factors considers the role of viral infection, and autoimmune processes that lead to dystrophic lesions of the salivary and lacrimal glands. Most disease (syndrome) Mikulic common in patients with blood diseases. Diagnosis is based on the study of clinical examination data, laboratory and instrumental studies, including sialography. Treatment is symptomatic: radiotherapy, procaine blockade, galantamine.
Moya-Moya disease - a rare vascular disease, which is a slowly progressive intracranial stenosis of cerebral arteries, accompanied by the development of bypass collaterals. Clinically manifest symptoms of chronic brain ischemia, TIA, subarachnoid haemorrhage, ischemic and hemorrhagic stroke. When the diagnosis of the basic data are cerebral angiography. Additionally conducted EEG, MRI /CT scan of the brain, ophthalmoscopy. Treatment may be conservative, but the most effective operation to impose extracranial mikroanastamoza.
Morton's disease - a local thickening of the shell plantar nerve at its passage between the heads of the metatarsal bones, also known as Morton's neuroma. The resulting neuroma leads to pain in the metatarsal and two toes that are provoked by the wearing of compressive fingers shoes. The diagnosis is made based on clinical signs, X-ray and ultrasound data stops. Treatment is conservative (anti-inflammatory, blockade, physiotherapy), with its inefficiency - surgery (resection of the neuroma and ligament dissection intertarsal).
Norrie disease - a genetic disorder characterized by the appearance of the retina in both eyes psevdogliomy in the first months of life, and other disorders and developmental disabilities. Symptoms of disease are total blindness, the presence of hyperplasia of the retinal pigment epithelium of the iris and, in some cases - a progressive mental retardation and hearing impairment. Diagnosis is made by means of ophthalmic research, genetic analysis and study of hereditary medical history of the patient. Norrie disease specific treatment exists, work with psychologists and neurologists to patients can delay or reduce the severity of the development of mental disability.
Parkinson's disease - a slowly progressive degenerative disease of the central nervous system, the main manifestations of which are the motor disorders such as hypokinesia, muscular rigidity, resting tremors, postural disorders. Besides, in Parkinson's disease develop autonomic, and other affective disorders. Distinguish true Parkinson's disease (Parkinson's disease), and Parkinson's syndrome that can accompany many neurological diseases (traumatic brain injury, brain tumors, stroke, encephalitis, etc.). If you suspect a Parkinson's disease patient should undergo electroencephalography, rheoencephalography, MRI of the brain.
Peyronie's disease - a curvature of the penis, which develops due to the sealing of the penis and the proliferation of fibrous tissue, which makes an erection painful. Diagnose this condition in 0.3-1% of men in the age group of 40- to 60-year-old. This medical research confirms that lead to the disease plaques in the tunica albuginea corpus cavernosum and benign seal from the back of the penis, urethra, and on the sides of the penis. The first mention of such a state as the Peyronie's disease reported in 1561 but it was much later described by the French surgeon Francois de la Peyronie.
The disease is recurrent muscle cramps - a hereditary form of myopathy, characterized by impaired metabolism of calcium in the sarcoplasmic reticulum. The main symptoms are painful spasms, especially during exercise, muscle weakness of the legs, general muscle weakness. Pathology Diagnosis is made on the basis of percussion and palpation of muscles, electromyography, muscle biopsy, an important role is also played by genetic studies. No specific treatment of the disease recurrent muscle spasm is not there, is used to relieve the symptoms of non-narcotic analgesics, antispasmodics.
Perthes disease (femoral head osteohondropatija, Perthes-Legg-Calvé disease) - a disease in which the blood supply to the femoral head is disrupted with subsequent aseptic necrosis. The disease occurs in adolescence or childhood and is one of the most common osteochondropathies. Start gradually, the first signs often go unnoticed. There are slight pain in the joint, perhaps a slight limp or "podvolakivanie 'feet. Subsequently, the pain becomes intense, there is a pronounced limp, swelling and weakness of the limbs, formed contracture. In the absence of treatment likely outcome becomes head deformity and coxarthrosis development. Diagnosis is exposed on the basis of symptoms and X-ray pictures. Treatment long, conservative. In severe cases, performed reconstructive surgery.
Pick's disease - variant of senile dementia with atrophic changes, localized mainly in the temporal and frontal lobes of the brain. Clinically manifest violation of behavior antisocial tendencies and disinhibition of instincts, the progressive collapse of the cognitive functions. List of diagnostic measures include EEG, cerebral vascular Doppler ultrasound, echo-EG consultation psychiatrist, CT, spiral CT or MRI of the brain. Treatment consists of a long reception of anticholinesterase agents, memantine, nootropics, but it does not prevent the full intellectual-mental disintegration of personality.
Pompe disease - a rare genetic pathology, a form of lysosomal storage disease, characterized by impaired digestion processes of glycogen in the nerve and muscle cells (skeletal muscle, myocardium). Symptoms of the disease is quite variable in the time of its manifestations and severity in different patients, traditionally observed progressive muscle weakness in some forms - cardiomegaly with dilated cardiomyopathy. Diagnosis of Pompe disease is made on the basis of family history, histological and histochemical study of muscle tissue, the biochemical analysis of blood and genetic studies. Treatment can currently be done with the help of an enzyme replacement therapy, but the efficacy of this procedure varies from patient to patient.
Disease Rendu-Osler-Weber - one of the most common hereditary hemorrhagic telangiectasia, the cause of which is the failure of some of the vascular wall of capillaries. Symptoms of the disease are frequent epistaxis, telangiectasia on the skin and mucous membranes, in severe forms can occur stomach and lung hemorrhage and chronic iron deficiency anemia. Diagnosis is carried out by means of examination of the patient, endoscopic studies, sometimes - the study of family history. No specific treatment of the disease Rendu-Osler-Weber today does not exist, use a variety of hemostatic measures and supportive therapy.
Refsum disease - genetically determined disorder of phytanic acid oxidation and its accumulation in the tissues of the body, leading to neurological disorders, visual impairment, hearing, smell, ichthyotic skin changes, disturbances of the heart. Diagnosed by the level of phytanic acid in the blood and urine, significantly higher than normal. Additionally, a study conducted of the nervous system, visual function, hearing and smell, of cardiac activity. The basis of treatment is restricted diet nutrients that contain phytanic acid. In serious condition patients shows plasmapheresis.
Still's disease - a serious disease characterized by fever, arthritis. Transient rashes on the skin, and systemic inflammatory lesion of somatic organs. Still's disease is diagnosed using methods exclude other disorders based on clinical symptoms, lab data, results of the study of the affected joints, and lymphoreticular cardiopulmonary system. Still's disease treatment is carried out in primarily non-steroidal anti-inflammatory and glucocorticoid reserve drugs are cytotoxic agents.
Takayasu's disease (nonspecific aortoarteriit) - idiopathic inflammation of the aorta, its departments and major arterial branches. Takayasu's disease etiology is unclear, presumably there is an autoimmune character development. The clinical course of nonspecific aortoarteritis depends on the level of aortic lesions (arch, thoracic or abdominal aorta) or pulmonary artery and its branches. Characteristic features are asymmetry or absence of a pulse in the brachial artery, the difference in blood pressure in different limbs, aorta noise angiographic changes - narrowing or occlusion of the aorta and its branches. Treatment of Takayasu's disease is conducted with corticosteroids, frequent cerebrovascular complications.
Tiemann's disease - a hereditary aseptic osteonecrosis of the phalanges of fingers. In a much more rarely encountered a similar stop loss. Tiemann disease manifests itself mainly swelling in interphalangeal joints of several fingers on both hands. Fusiform swelling is not accompanied by inflammatory symptoms. Diagnosis of the disease is Tiemann hand bones radiography and laboratory tests (CBC, the definition of RF and CRP blood) to eliminate infectious and rheumatic joints. Symptomatic treatment of the disease by conservative methods: fixing bandage, massage, physiotherapy.
Disease Unferrihta-Lundborg - a hereditary disease that affects the central nervous system and is characterized by diverse and progressive symptoms. The main symptoms of disease are the seizures, myoclonus, provoked by external stimuli, the growing violations of mental activity and sensory ataxia. Diagnosis of the disease Unferrihta-Lundborg is based on neurological examination of the patient, the study of family history and genetic data analysis. Specific treatment does not exist, but timely treatment based on anticonvulsant and neuroprotective agents capable of slow development and almost completely eliminate the symptoms of the disease.
Fox-Fordyce disease - specific skin disease has a gender coloring that affects the region of localization of glandular appendages of the dermis, is usually associated with dysfunction of the thyroid and sex glands. Leading symptom of dermatosis - bouts of severe itching in conjunction with melkouzelkovoy rash in the armpits, around the nipples, navel, pubic hair, genitals. Nodules oval, skin color, matt-shiny, tightly surround the follicles and apocrine glands, sebaceous, closing their openings accumulation of horny scales. Diagnosis is based on a typical hospital. Treatment is aimed at removing itching and suppress activity of the skin glands.
Forestier's disease (fixing hyperostosis) - a rare non-inflammatory disease of the musculoskeletal system, associated with the formation of bone tissue in tendons and ligaments, that gradually leads to its ossification and complete immobility (ankylosis). The most frequently observed lesion spinal anterior longitudinal ligament in its various departments. Forestier's disease is manifested discomfort, stiffness and pain in the breast, and then the lumbar and cervical spine; Local soreness different parts of the peripheral part of the musculoskeletal system. Forestier's disease is diagnosed based on data obtained by X-ray examination of the spine not only in a straight line, but also in the side view. Forestier's disease Treatment of symptomatic held conservative methods.
Giant cell temporal arteritis (Horton's disease) - an inflammatory disease (vasculitis) with an autoimmune mechanism of development, affecting mainly large and medium-sized intra- and extracranial vessels. The most frequently observed vascular inflammation branches of the external carotid artery. Diagnosis of Horton's disease includes clinical and neurological examination of the patient, assessment of laboratory data, body condition and the results of the biopsy of the temporal artery, conducting ultrasonography, MRI and CT of the brain. Horton's disease treatment consists of initial and maintenance therapy with glucocorticoids. It is carried out for two years and can be canceled only in the absence of relapses.
Chagas disease - transmissible protozoal infection caused by a pathogenic Trypanosoma cruzi, a carrier triatominae. The acute form of Chagas disease manifested by fever, headache and muscle pain, swelling, rash, lymphadenitis, hepatosplenomegaly, cardiomegaly and myocarditis, meningoencephalitis; chronic - congestive heart failure, megaezofagusom, megacolon. The diagnosis of Chagas disease based on data from medical history, clinical presentation, microscopic, culture and serological studies. In the treatment of Chagas disease are applied antiparasitic drugs, symptomatic agents, complications - surgery.
Schamberg disease (chronic pigmentary purpura, hemosiderosis of the skin) - a chronic disease associated with damage to the vascular wall located in the skin capillaries and characterized by the appearance on the skin petechial hemorrhages (petechiae), turning into brown and brown spots. Diagnosis of the disease is carried out by dermoscopy patient's skin. Treatment is anti-inflammatory drugs, glucocorticoids, plasmapheresis and spend hemosorption if necessary.
Sjogren's disease - an autoimmune systemic failure of the connective tissue characterized by exocrine glandular and vnezhelezistymi manifestations. The most common manifestation of glandular Sjogren's disease is decreased secretion of the lacrimal and salivary glands, accompanied by a burning sensation in the eyes, and dry nose and throat. By vnezhelezistym manifestations include myalgia, muscle weakness, arthralgia, hemorrhage, swollen lymph nodes, neuritis and others. The diagnosis of Sjogren's disease is placed in view of the complex clinical and laboratory signs of functional tests. Treatment for corticosteroid hormones and cytostatics; the disease often benign.
Scheuermann's disease-Mau (juvenile kyphosis) - dorsopathies accompanied by progressive kyphotic curvature of the spine. Occurs in puberty, it is equally common in boys and girls. The exact reason for the development is not known, it is assumed that there is a genetic predisposition. As risk factors are considered osteoporosis vertebrae, trauma and disruption of the development of the back muscles. In the early stages symptoms erased. Later, pain and the apparent deformity of the spine - stooping round back, in severe cases can hump. In some cases develop neurological complications. To confirm the diagnosis perform radiography, CT and MRI. Treatment is usually conservative, with severe deformities conducted surgery.
Shintsa disease (osteohondropatija tuberosity of the calcaneus, the disease-Gaglunda Shintsa) - aseptic necrosis of the calcaneal tuberosity. Most suffer from teenage girls. The cause of the final has not been elucidated. It is assumed that the disease is caused by local vascular disorders arising from a congenital predisposition, as a result of infections, metabolic disorders, and so on. D. The main precipitating factor is overexertion during exercise and frequent injuries heels. The disease manifests itself gradually intensified pain in the calcaneal tuber. Pain becomes more intense during movement and load. Over time, because of the severe pain syndrome patients start walking with support only on the forefoot. Diagnosis is exposed on the basis of symptoms and characteristic radiographic findings. Treatment is conservative, a favorable prognosis.
Disease Shlyattera - aseptic destruction of the tuberosity of the tibia, and the kernel that occurs on a background of chronic injury in the period of intensive growth of the skeleton. Osgood-Schlatter disease is clinically manifested by pain in the lower part of the knee that arise when flexion (sit-ups, walking, running), and swelling in the tibial tuberosity. Shlyattera disease is diagnosed based on a comprehensive assessment of the data history, examination, X-ray examination and CT scan of the knee joint, as well as local densitometry and laboratory studies. Osgood-Schlatter disease is treated in most cases, conservative methods: gentle propulsion mode for the affected knee joint, anti-inflammatory drugs, analgesics, physical therapy facilities, physical therapy, massage.
Stargardt's disease - a hereditary disease of the retina, which is manifested by degenerative changes in its macular area and leads to loss of central vision. The debut of the disease falls on children and adolescence. Patients marked central scotoma and impaired color vision. Stargardt disease progression leads to total blindness. Diagnosis is made using ophthalmoscopy, fluorescein angiography and electrophysiologic studies of the retina. For the treatment of used injection therapy (vitamins, antioxidants, angioprotectors), physiotherapy, held revascularization surgery, developed a technique of autologous tissue therapy.