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Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives.

https://arctichealth.org/en/permalink/ahliterature217615
Source
Can J Neurol Sci. 1994 Aug;21(3):203-12
Publication Type
Article
Date
Aug-1994
Author
A G Lacson
S S Seshia
H B Sarnat
J. Anderson
W R DeGroot
A. Chudley
C. Adams
H Z Darwish
R B Lowry
S. Kuhn
Author Affiliation
Department of Pathology, University of Manitoba.
Source
Can J Neurol Sci. 1994 Aug;21(3):203-12
Date
Aug-1994
Language
English
Publication Type
Article
Keywords
Canada
Electromyography
Electrophoresis, Polyacrylamide Gel
Fatal Outcome
Female
Genes, Recessive
Humans
Indians, North American
Infant
Infant, Newborn
Male
Microscopy, Electron
Muscle Proteins - analysis - metabolism
Muscle, Skeletal - metabolism - pathology
Muscular Dystrophies - ethnology - genetics - mortality
Nerve Tissue Proteins - metabolism
Pedigree
Abstract
We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.
PubMed ID
8000975 View in PubMed
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Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.

https://arctichealth.org/en/permalink/ahliterature220544
Source
J Med Genet. 1993 Aug;30(8):670-4
Publication Type
Article
Date
Aug-1993
Author
E. Hildes
H K Jacobs
A. Cameron
S S Seshia
F. Booth
J A Evans
K. Wrogemann
C R Greenberg
Author Affiliation
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Source
J Med Genet. 1993 Aug;30(8):670-4
Date
Aug-1993
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Female
Genetic Counseling - methods
Humans
Infant, Newborn
Male
Manitoba
Muscular Dystrophies - genetics
Neonatal Screening
Pilot Projects
Questionnaires
Abstract
In a pilot neonatal screening programme for Duchenne muscular dystrophy (DMD) conducted in the Canadian province of Manitoba, a cohort of eight affected males was identified between 1 January 1986 and 31 December 1989. Demographic information, knowledge of DMD, reproductive outcome, and attitudes to prenatal diagnosis and neonatal screening for DMD were obtained through questionnaires distributed in May 1992 to the eight sets of parents of index cases, two high probability carrier aunts, and one high probability carrier sister. Personal interviews were subsequently conducted in the summer of 1992. Although there is overall consensus among the families in favour of routine neonatal screening for DMD, five of seven subsequent pregnancies reported in six women were not monitored by prenatal diagnosis and have resulted in the birth of two affected boys. In a comparable time interval, prenatal diagnosis was acceptable to carrier females whose affected male relatives were traditionally diagnosed at four or five years. We conclude that, although molecular genetic analysis now allows for precise diagnosis of DMD, highly accurate carrier testing and prenatal diagnosis, very early DMD carrier identification, and genetic counselling after the identification of DMD males in a population based neonatal screening programme may not be an effective way of decreasing the number of repeat cases of DMD within families or the overall population frequency of DMD.
Notes
Cites: J Genet Hum. 1987 Aug;35(4):217-303655748
Cites: Lancet. 1988 Aug 20;2(8608):425-72900355
Cites: Lancet. 1992 May 16;339(8803):1210-31349946
Cites: Am J Hum Genet. 1992 May;50(5):1077-851570837
Cites: Am J Med Genet. 1991 Apr 1;39(1):68-751867267
PubMed ID
8411054 View in PubMed
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The neurological manifestations of chronic inhalation of leaded gasoline.

https://arctichealth.org/en/permalink/ahliterature248571
Source
Dev Med Child Neurol. 1978 Jun;20(3):323-34
Publication Type
Article
Date
Jun-1978
Author
S S Seshia
K R Rjani
R L Boeckx
P N Chow
Source
Dev Med Child Neurol. 1978 Jun;20(3):323-34
Date
Jun-1978
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
Dimercaprol - therapeutic use
Edetic Acid - therapeutic use
Electrocardiography
Electroencephalography
Female
Gasoline - poisoning
Humans
Indians, North American
Lead - blood
Lead Poisoning - diagnosis - drug therapy
Male
Manitoba
Neural Conduction - drug effects
Neurologic Manifestations
Penicillamine - therapeutic use
Petroleum - poisoning
Substance-Related Disorders - diagnosis - drug therapy
Abstract
Abnormal neurological signs were found in 46 of 50 children and adolescents chronically sniffing leaded gasoline. These abnormalities resolved within eight weeks in all but one case. Exaggerated deep reflexes, postural tremor and evidence of cerebellar dysfunction occurred in a highly significnat number of patients. Forty-nine had blood lead levels greater than or equal to 40ug/dl. The mean blood lead levels were significantly higher in those with (a) abnormally brisk deep reflexes and (b) with evidence of cerebellar dysfunction, than in those without these findings. Five optional treatment regimes were employed and a classification was used, based on clinical findings, initial blood lead levels and the response to the calcium disodium edatate mobilization test. 39 patients received chelation therapy. These data suggest that neurological manifestations occur frequently in those abusing leaded gasoline and that chelation therapy has an important place in their management.
PubMed ID
97111 View in PubMed
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Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.

https://arctichealth.org/en/permalink/ahliterature227167
Source
J Pediatr. 1991 Jan;118(1):52-8
Publication Type
Article
Date
Jan-1991
Author
J C Haworth
F A Booth
A E Chudley
G W deGroot
L A Dilling
S I Goodman
C R Greenberg
C J Mallory
B M McClarty
S S Seshia
Author Affiliation
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Source
J Pediatr. 1991 Jan;118(1):52-8
Date
Jan-1991
Language
English
Publication Type
Article
Keywords
Adult
Amino Acid Metabolism, Inborn Errors - genetics
Canada
Child
Child, Preschool
Female
Glutarates - metabolism
Glutaryl-CoA Dehydrogenase
Humans
Indians, North American - genetics
Infant
Male
Oxidoreductases - deficiency
Oxidoreductases Acting on CH-CH Group Donors
Phenotype
Abstract
We describe 14 patients with glutaric aciduria type 1 in five Canadian Indian kindreds living in Manitoba and northwest Ontario. The patients had marked clinical variability of the disease, even within families. Eight followed the typical clinical course of normal early growth and development until the onset of neurologic abnormalities, often precipitated by infection, between 6 weeks and 7 1/2 months of age. Five patients had early developmental delay; one was thought to be normal until 8 years of age. Three patients died, seven are severely mentally and physically handicapped, and four have only mild mental retardation or incoordination. Six patients had macrocephaly in the neonatal period. Computed tomography was done for 12 patients, and findings were abnormal in 11. Glutaric acid and 3-hydroxyglutaric acid were detected in increased amounts in the urine of all patients, but the concentrations were much lower than those in most other reported patients. Glutaryl coenzyme A dehydrogenase activity in skin fibroblasts, interleukin-2-dependent lymphocytes, or both, ranged from 0% to 13% of control values. There was no correlation between clinical severity and urine glutaric acid concentration or level of residual enzyme activity. We recommend that organic acid analysis of the urine be done in patients with unexplained cerebral palsy-like disorders, especially if the computed tomographic scan is abnormal. If there is suspicion of glutaric aciduria, glutaryl-coenzyme A dehydrogenase should be measured in fibroblasts or lymphocytes even if glutaric acid is not increased in the urine.
PubMed ID
1986098 View in PubMed
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