Biomaterial Database

Familial spastic paraplegia with Kallmann's syndrome. 1983

R R Tuck, and B P O'Neill, and H Gharib, and D W Mulder

A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.

UI	MeSH Term	Description	Entries
D007006	Hypogonadism	Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).	Hypergonadotropic Hypogonadism,Hypogonadism, Isolated Hypogonadotropic,Hypogonadotropic Hypogonadism,Hypogonadism, Hypergonadotropic,Hypogonadism, Hypogonadotropic
D008297	Male		Males
D009128	Muscle Spasticity	A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)	Clasp-Knife Spasticity,Spastic,Clasp Knife Spasticity,Spasticity, Clasp-Knife,Spasticity, Muscle
D010264	Paraplegia	Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.	Paralysis, Lower Extremities,Paraplegia, Spastic,Spastic Paraplegia,Paralysis, Legs,Paralysis, Lower Limbs,Paraplegia, Ataxic,Paraplegia, Cerebral,Paraplegia, Flaccid,Paraplegia, Spinal,Ataxic Paraplegia,Ataxic Paraplegias,Cerebral Paraplegia,Cerebral Paraplegias,Flaccid Paraplegia,Flaccid Paraplegias,Paraplegias,Paraplegias, Ataxic,Paraplegias, Cerebral,Paraplegias, Flaccid,Paraplegias, Spastic,Paraplegias, Spinal,Spastic Paraplegias,Spinal Paraplegia,Spinal Paraplegias
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012021	Reflex, Abnormal	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	Hyperreflexia,Hyporeflexia,Abnormal Deep Tendon Reflex,Abnormal Reflex,Abnormal Reflexes,Bulbocavernosus Reflex, Decreased,Bulbocavernousus Reflex Absent,Hoffman's Reflex,Palmo-Mental Reflex,Reflex, Absent,Reflex, Acoustic, Abnormal,Reflex, Anal, Absent,Reflex, Anal, Decreased,Reflex, Ankle, Abnormal,Reflex, Ankle, Absent,Reflex, Ankle, Decreased,Reflex, Biceps, Abnormal,Reflex, Biceps, Absent,Reflex, Biceps, Decreased,Reflex, Corneal, Absent,Reflex, Corneal, Decreased,Reflex, Decreased,Reflex, Deep Tendon, Abnormal,Reflex, Deep Tendon, Absent,Reflex, Gag, Absent,Reflex, Gag, Decreased,Reflex, Knee, Abnormal,Reflex, Knee, Decreased,Reflex, Moro, Asymmetric,Reflex, Pendular,Reflex, Triceps, Abnormal,Reflex, Triceps, Absent,Reflex, Triceps, Decreased,Reflexes, Abnormal,Absent Reflex,Decreased Bulbocavernosus Reflex,Decreased Reflex,Palmo Mental Reflex,Pendular Reflex,Reflex Absent, Bulbocavernousus,Reflex, Decreased Bulbocavernosus,Reflex, Hoffman's,Reflex, Palmo-Mental
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003117	Color Vision Defects	Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.	Achromatopsia,Color Blindness,Monochromatopsia,Color Blindness, Acquired,Color Blindness, Blue,Color Blindness, Green,Color Blindness, Inherited,Color Blindness, Red,Color Blindness, Red-Green,Color Vision Deficiency,Deutan Defect,Protan Defect,Tritan Defect,Achromatopsias,Acquired Color Blindness,Blindness, Color,Blue Color Blindness,Color Blindness, Red Green,Color Vision Defect,Color Vision Deficiencies,Defect, Color Vision,Defect, Deutan,Defects, Color Vision,Deficiencies, Color Vision,Deficiency, Color Vision,Green Color Blindness,Inherited Color Blindness,Red Color Blindness,Red-Green Color Blindness,Vision Defect, Color,Vision Defects, Color,Vision Deficiencies, Color,Vision Deficiency, Color
D006065	Gonadotropins, Pituitary	Hormones secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR) that stimulate gonadal functions in both males and females. They include FOLLICLE STIMULATING HORMONE that stimulates germ cell maturation (OOGENESIS; SPERMATOGENESIS), and LUTEINIZING HORMONE that stimulates the production of sex steroids (ESTROGENS; PROGESTERONE; ANDROGENS).	Pituitary Gonadotropins
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man