Infantile Muscular Atrophy

Byers, Randolph K.; Banker, Betty Q.

doi:10.1001/archneur.1961.00450140022003

Cited by 200 publications

(74 citation statements)

References 17 publications

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“…The presentation including the proportion of children whose symptoms started either in utero or were present by the age of one month, and the subsequent clinical course of the cases seen in this series conforms with the pattern described from the Western countries [1,19,20]. The higher female frequency in this series is at variance with the experience from other studies that have shown either equal sex distribution or an increased male frequency [2,21].…”

Section: Discussionsupporting

confidence: 83%

Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar

et al. 1992

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We describe the clinical features of 25 cases of Werdnig Hoffman's disease (spinal muscular atrophy (SMA) type I) seen prospectively over a two-year period at the King Fahd Hospital of the University (KFHU), Al-Khobar. The hospital incidence rate was 1.93 per 1,000 live births (95% confidence limits, 0.80-3.06/1,000). The estimated prevalence rate for the community was 0.92/10,000 with 0.59-1.25 per 10,000 children as its 95% confidence limits. The male to female ratio was 2:3. Reduced fetal movements were reported by six mothers; 8 children (32%) had symptoms at birth, and 24 (96%) had symptoms by the time they were six months old. Other features apart from hypotonia, muscle weakness, and absent deep tendon reflexes included head lag with inability to achieve head control at six months (88%), respiratory problems consisting of difficulty with breathing or frequent chest infections (44%), and difficulty with feeding (40%). Wasting with fasciculations of the tongue was seen in 64%. Death occurred within six months of presentation in 75% of the cases. The parents were consanguineous in 64% of the cases. This high consanguinity rate was probably the major cause for the high population prevalence rate. Al-Khobar. 1992; 12(1): 67-71 Spinal muscular atrophy (SMA) consists of a group of disorders that present with generalized muscle weakness, muscle atrophy and areflexia secondary to degeneration of the anterior horn cells and bulbar motor nuclei without involvement of the pyramidal tracts [1]. Although recent studies have defined the genetic locus for SMA on chromosome 5q, distinct syndromes are still recognized [2][3][4][5]. The criteria that have been used to classify SMA include the age of onset, mode of inheritance and subsequent clinical course. The resulting heterogenous group of disorders have varying degrees of morbidity and mortality.SMA is the second most common neuromuscular disorder in children [1]. Werdnig Hoffman'sdisease (SMA type I), its most severe form, presents in infants, accounts for 25% of all cases and runs a progressive clinical course culminating in death by the age of three years in the majority of cases [6]. It is inherited as an autosomal recessive disorder although sporadic cases do occur [7]. Despite continued interest in the developed countries, there is little information on SMA in the Arabian peninsula and developing communities [8][9][10][11][12][13][14][15][16]. This communication reports the results of a clinical study of SMA type I conducted in a teaching hospital in the Eastern Province of Saudi Arabia. Patients and MethodsAll Saudi children who presented with muscle weakness or hypotonia at the Pediatric and other outpatient clinics of the King Fahd Hospital of the University (KFHU), Al-Khobar, Saudi Arabia between January 1, 1986 and December 31, 1987 were evaluated by the Department of Neurology, KFHU, Al-Khobar.The families, of children with the diagnosis of SMA type I were re-interviewed to obtain detailed family and social histories. Relatives of the parents of the index...

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Section: Discussionsupporting

confidence: 83%

Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar

et al. 1992

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“…Type I/II patient skeletal muscle biopsies showed muscle atrophy as expected (Fig 2B), 36 and given these differences in fiber size, the calculation of capillary/fiber ratio, as used here, is the most reliable indicator of overall muscle vascularity. This methodology indicated similar values at under 1 month of age (C:F 5 0.1:1 in Control and 0.08:1 in SMA), but a 10-fold difference in values at 33 to 36 months of age (C:F 5 0.8:1 in Control and 0.08:1 in SMA).…”

Section: Conserved Vascular Defects Are Present Insupporting

confidence: 73%

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

Somers

Lees

Hoban

et al. 2016

Annals of Neurology

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“…The clinical constancy of acute SMA has led to the suggestion that this form is genet ically homogeneous [2,5,[14][15][16][17][18][19], The variabil ity in clinical course and mode of inheritance of the more chronic forms has spurred debate as to whether they represent a single disease with a wide range of expression [5, 7. 14.…”

Section: Introductionmentioning

confidence: 99%

Assessment of Nonallelic Genetic Heterogeneity of Chronic (Type II and III) Spinal Muscular Atrophy

Mérette

Kleyn

et al. 1993

Hum Hered

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We have previously reported the mapping of the chronic (type II/intermediate and type III/mild/Kugelberg-Welander) form of the childhood-onset spinal muscular atrophies (SMA) to chromosome 5q11.2–13.3, with evidence for nonallelic genetic heterogeneity within a small sample of seven families [Brzustowicz et al., Nature 1990;344:540–541]. We now report the results of linkage analysis and heterogeneity testing on a set of 38 families with chronic SMA. Significant evidence for nonallelic heterogeneity was detected among these families, with the predominant locus for chronic SMA mapping to a 0.51-cM region on 5q, between the loci D5S6 and MAP1B. The estimated proportion of linked families, α, was 0.91, with a 2.3-unit support interval of 0.75 to 0.98. The indication that some families diagnosed with chronic SMA are not linked to chromosome 5q must be considered in strategies to map the SMA locus. The relevance of these findings to acute SMA (SMA type I, severe, Werdnig-Hoffmann disease) is still unknown.

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Infantile Muscular Atrophy

Cited by 200 publications

References 17 publications

Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar

Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

Assessment of Nonallelic Genetic Heterogeneity of Chronic (Type II and III) Spinal Muscular Atrophy

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