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Similar words: Sjogren's Syndrome  

Stiff-Person Syndrome

Moersch-Woltmann Syndrome | Stiff-Man Syndrome | Stiffman Syndrome | Moersch Woltmann Syndrome | Stiff Man Syndrome | Stiff Person Syndrome | Syndrome, Moersch-Woltmann | Syndrome, Stiff-Man | Syndrome, Stiff-Person | Syndrome, Stiffman

A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)

Androgen-Insensitivity Syndrome

Testicular Feminization | Androgen-Insensitivity Syndrome, Complete | Androgen-Insensitivity Syndrome, Partial | Reifenstein Syndrome | Reifenstein' | s Syndrome | Androgen Insensitivity Syndrome | Androgen Insensitivity Syndrome, Partial

A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN; AR) gene. Severity of the defect in AR quantity or quality correlates with their phenotypes. The phenotype spectrum varies from those with normal female external genitalia in ANDROGEN-INSENSITIVITY SYNDROME, through those with genital ambiguity in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

Pancoast's Syndrome

Pancoast Syndrome | Pancoasts Syndrome | Syndrome, Pancoast' | s

Destructive lesions of the thoracic inlet with involvement of the brachial and sympathetic plexus or carcinoma of the lung apex. It is characterized by pain in the shoulder region radiating toward the axilla and scapula, sensory and motor disorders and wasting of the muscles of the hand, the Bernard-Horner syndrome, and compression of the blood vessels with edema. (Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)

Mucopolysaccharidosis II

Gargoylism, Hunter Syndrome | Hunter' | s Syndrome | Hunter Syndrome Gargoylism | Mucopolysaccharidosis 2 | Gargoylisms, Hunter Syndrome | Hunter Syndrome | Hunter Syndrome Gargoylisms | Hunters Syndrome | IIs, Mucopolysaccharidosis

Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.

POEMS Syndrome

Crow-Fukase Syndrome | Takatsuki' | s Syndrome | Crow Fukase Syndrome | Syndrome, Crow-Fukase | Syndrome, POEMS | Syndrome, Takatsuki' | s | Takatsuki Syndrome

A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)

Mucopolysaccharidosis I

Hurler' | s Syndrome | Hurler-Scheie Syndrome | Lipochondrodystrophy | Mucopolysaccharidosis V | Pfaundler-Hurler Syndrome | Scheie' | s Syndrome | Gargoylism, Hurler Syndrome | Hurler Disease | Hurler' | s Disease | MPS I H | MPS I H-S

Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarsness of the facial features of affected individuals.

Brain Stem Infarctions

Benedict Syndrome | Claude Syndrome | Foville Syndrome | Millard-Gublar Syndrome | Top of the Basilar Syndrome | Weber Syndrome | Brainstem Infarctions | Brainstem Stroke | Infarctions, Brain Stem | Infarctions, Brainstem | Brain Stem Infarction

Infarctions that occur in the brain stem which is comprised of the midbrain, pons, and medulla. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.

Leriche's Syndrome

Leriche Syndrome | Leriches Syndrome | Syndrome, Leriche' | s

A syndrome caused by obstruction of the terminal aorta. It usually occurs in males and is characterized by fatigue in the hips, thighs, or calves on exercising, absence of pulsation in the femoral arteries, impotence, and often pallor and coldness of the lower limbs. (From Dorland, 27th ed)

Gerstmann Syndrome

Developmental Gerstmann Syndrome | Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphia | Acquired Gerstmann Syndrome | Acquired Gerstmann' | s Syndrome | Developmental Gerstmann' | s Syndrome | Gerstmann' | s Syndrome

A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation. The syndrome may be developmental or acquired. Acquired Gerstmann syndrome is associated with lesions in the dominant (usually left) PARIETAL LOBE which involve the angular gyrus or subjacent white matter. (From Adams et al., Principles of Neurology, 6th ed, p457)

Uveomeningoencephalitic Syndrome

Uveomeningoencephalitis | Vogt-Koyanagi-Harada Syndrome | Syndrome, VKH (Vogt Koyanagi Harada) | Syndrome, Vogt Koyanagi Harada | VKH (Vogt Koyanagi Harada) Syndrome | VKH Syndrome | Vogt-Koyanagi-Harada Disease | Syndrome, VKH

A syndrome characterized by bilateral granulomatous UVEITIS with IRITIS and secondary GLAUCOMA, premature ALOPECIA, symmetrical VITILIGO, poliosis circumscripta (a strand of depigmented hair), HEARING DISORDERS, and meningeal signs (neck stiffness and headache). Examination of the cerebrospinal fluid reveals a pattern consistent with MENINGITIS, ASEPTIC. (Adams et al., Principles of Neurology, 6th ed, p748; Surv Ophthalmol 1995 Jan;39(4):265-292)
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