Chronic proximal spinal muscular atrophy

Namba, Tatsuji; Aberfeld, Donald C.; Grob, David

doi:10.1016/0022-510x(70)90001-8

Cited by 69 publications

(20 citation statements)

References 53 publications

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“…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.…”

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confidence: 99%

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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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 suggested that a similar inhibitory effect in vivo on the binding of specific antibodies to AcChoR at the neuromuscular junction may occur during pregnancy in patients with myasthenia gravis. Because myasthenia gravis is an autoimmune disease caused by the immunopathologic effect of specific autoantibodies directed against AcChoR at the neuromuscular junction (3), such inhibitory effects may help to explain two phenomena observed in myasthenia gravis during pregnancy and after delivery: The occurrence of partial or complete remissions during the second and (especially) the third trimester, as well as exacerbations during the early postpartum period (4)(5)(6)(7)(8); and the appearance of transitory neonatal myasthenia gravis (NMG) in the newborn babies, due to placental transfer of maternal antibodies (9)(10)(11), only after birth and only in a minority of the cases (12,13). This paper presents experimental data showing that the immunosuppressant a-fetoprotein, but not other components derived from both human amniotic fluid and human umbilical cord, is the factor inhibiting the binding of antibodies to AcChoR antigen present in these fluids.…”

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confidence: 99%

Inhibitory effect of alpha-fetoprotein on the binding of myasthenia gravis antibody to acetylcholine receptor.

Brenner¹,

Beyth²,

Abramsky³

1980

Proc. Natl. Acad. Sci. U.S.A.

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The binding of myasthenia gravis antibody to acetylcholine receptor (AcChoR) as measured in vitro by radioimmunoassay with 125-labe ed a-bungarotoxin (a-BuTx), can be blocked by amniotic fluid, maternal serum, and umbilical cord serum. This inhibitory effect is due to a-fetoprotein present in high concentrations in amniotic fluid and serum, as shown by: (i) selective removal of several components from amniotic fluid and serum; (ih) selective addition of different components present in amniotic fluid and serum, including a-fetoprotein, to the radioimmunoassay; (iii) correlation between the inhibitory effect of both amniotic fluid and serum and between the amounts of a-fetoprotein they contain; (iv) blocking of the a-fetoprotein effect by pretreatment of the amniotic fluid with anti-a-fetoprotein anti'y. The inhibitory effect of a-fetoprotein in vitro suggests a similar effect in vivo in pregnant women with myasthenia gravis. This effect may explain in part the variability in the development of neonatal myasthenia gravis in the babies, due to transplacental transfer of maternal anti-AcChoR antibody, only after delivery and only in the minority of the cases. It also may explain the appearance of remissions in females with myasthenia gravis during the second and third trimesters of pregnancy. Similar phenomena observed during pregnancy in other autoimmune and immunopathogenic diseases also might be attributed to activity of a-fetoprotein.In studies from our laboratory (1, 2), we demonstrated that the in vitro binding of antibodies to acetylcholine receptor (AcChoR) from patients with myasthenia gravis to AcChoR antigen can be inhibited by: (i) human amniotic fluid obtained from healthy women during the second trimester; (Hi) serum obtained from healthy women during the second and third trimesters; and (iii) umbilical cord serum obtained after delivery from both healthy women and myasthenics. We suggested that a similar inhibitory effect in vivo on the binding of specific antibodies to AcChoR at the neuromuscular junction may occur during pregnancy in patients with myasthenia gravis. Because myasthenia gravis is an autoimmune disease caused by the immunopathologic effect of specific autoantibodies directed against AcChoR at the neuromuscular junction (3), such inhibitory effects may help to explain two phenomena observed in myasthenia gravis during pregnancy and after delivery: The occurrence of partial or complete remissions during the second and (especially) the third trimester, as well as exacerbations during the early postpartum period (4-8); and the appearance of transitory neonatal myasthenia gravis (NMG) in the newborn babies, due to placental transfer of maternal antibodies (9-11), only after birth and only in a minority of the cases (12, 13). This paper presents experimental data showing that the immunosuppressant a-fetoprotein, but not other components derived from both human amniotic fluid and human umbilical cord, is the factor inhibiting the binding of antibodies to AcChoR antigen present in the...

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“…The disease was more severe in female sibs than in male sibs, in contrast to the usual pattern (Namba, Aberfeld, and Grob, 1970).…”

Section: Discussionmentioning

confidence: 60%

A family of juvenile proximal spinal muscular atrophy with dominant inheritance.

A¹,

Cainchetti²,

Calisti³

et al. 1976

Journal of Medical Genetics

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Chronic proximal spinal muscular atrophy

Cited by 69 publications

References 53 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

Inhibitory effect of alpha-fetoprotein on the binding of myasthenia gravis antibody to acetylcholine receptor.

A family of juvenile proximal spinal muscular atrophy with dominant inheritance.

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