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[Congenital autosomal-recessive familial spastic paraplegia]. 1991

L O Badalian, and R U Umakhanov, and P A Temin, and B A Arhipov, and N V Bulaeva, and G M Sakidebirov

The authors describe a family living in the Dagestan where three relative sibs, girls, suffered from familial spastic paraplegia. The variety described is marked by early debut, pronounced intrafamilial polymorphism of the disease course, autosomal recessive type of inheritance which, according to the reported data, is marked by frequently occurring combination with damage to other organs and systems (the familial spastic paraplegia "plus"). The "pure" disease variety seen in autosomal recessive type of inheritance, detection of the disease symptoms since the birth indicate that the case in question is a rare clinical variety of familial spastic paraplegia.

UI MeSH Term Description Entries
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
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015419 Spastic Paraplegia, Hereditary A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) Hereditary Spastic Paraplegia,X-Linked, Spastic Paraplegia, Hereditary,Autosomal Dominant Hereditary Spastic Paraplegia,Autosomal Dominant Spastic Paraplegia Hereditary,Autosomal Recessive Hereditary Spastic Paraplegia,Autosomal Recessive Spastic Paraplegia, Hereditary,CMT with Pyramidal Features,Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant,HMSN 5,HMSN Type V,HMSN V,HMSN V (Hereditary Motor and Sensory Neuropathy Type V),Hereditary Autosomal Dominant Spastic Paraplegia,Hereditary Autosomal Recessive Spastic Paraplegia,Hereditary Motor And Sensory Neuropathy V,Hereditary Motor and Sensory Neuropathy 5,Hereditary Motor-Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegia, Autosomal Recessive,Hereditary X-Linked Recessive Spastic Paraplegia,Hereditary, Spastic Paraplegia, Autosomal Dominant,Hereditary, Spastic Paraplegia, X-Linked Recessive,Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia,Paraplegia, Spastic, Hereditary,Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant,Spastic Paraplegia 2,Spastic Paraplegia Type 2,Spastic Paraplegia, Autosomal Dominant, Hereditary,Spastic Paraplegia, Autosomal Recessive, Hereditary,Spastic Paraplegia, Hereditary, Autosomal Dominant,Spastic Paraplegia, Hereditary, Autosomal Recessive,Spastic Paraplegia, Hereditary, X-Linked Recessive,Spastic Paraplegia, X-Linked Recessive, Hereditary,Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy,Type V Hereditary Motor and Sensory Neuropathy,X Linked Recessive Hereditary Spastic Paraplegia,X-linked Recessive Hereditary Spastic Paraplegia,Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant,Hereditary Motor Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegias,Hereditary X Linked Recessive Spastic Paraplegia,Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia,Paraplegia, Hereditary Spastic,Paraplegias, Hereditary Spastic,Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy,Spastic Paraplegias, Hereditary,Type V, HMSN
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

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