Clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron function

Sheth, Jayesh; Patel, Harsh; Mehta, Sanjiv; Tewari, Stuti; Sheth, Frenny

doi:10.1007/s13312-013-0168-z

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…In index case, exons 7 and 8 of gene SMN1 and exon 7 of SMN2 genes were found to be deleted which is a rare phenomenon. This mutation is the most common type of mutation and one study conducted in Ahmadabad, Gujarat by Sheth et al [8] on 105 children showed that Werdnig Hoffman illness was the most prevalent variety, with 34 (52.3%) of the children having it. A similar case of Werdnig Hoffmann syndrome was also reported by Collado Ortiz MA et al (9) where a baby presented with respiratory problems and had tongue fasciculations classically, which was also seen in our index case too.…”

Section: Discussionmentioning

confidence: 99%

A rare case of spinomuscular atrophy masquerading neonatal encephalopathy in a newborn

Lakra¹

2022

JSAS

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Spinomuscular atrophy is a rare type of inherited neuromuscular disorder of degeneration of alfa cells of the anterior horn. The presentation and prognosis of disease vary depending upon the type, age of presentation and severity of the disease. Here we are presenting a case of a male baby who presented with lethargy, poor feeding, respiratory distress and seizures. On examination the child was sick looking, tachypnoeic, with Downe’s score of 7, with bilateral crypts with hypotonia and having seizures. The laboratory parameters showed thrombocytopenia, leucopenia, hypoglycaemia with normal serum levels of creatine phosphokinase. The septic screening was suggestive of sepsis. The amplitude integrated EEG showed abnormal pattern. The tandem mass spectroscopy for Inborn error of metabolism screening was normal. The neurosonography and MRI brain showed no abnormalities. The baby developed respiratory muscle weakness, hypotonia, bulbar palsy, areflexia and characteristic eyelid and tongue fasciculations subsequently as diseases progressed which required oxygen and respiratory support for prolonged duration. The gene study confirmed the deletion of exons 7 and 8. Sibling and parental screening were advised and the baby was managed with supportive care and referred to a higher centre for further advanced treatment. The knowledge and varying presentations of this illness are important for the treating doctors from the prognostic point of view

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Section: Discussionmentioning

confidence: 99%

A rare case of spinomuscular atrophy masquerading neonatal encephalopathy in a newborn

Lakra¹

2022

JSAS

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“…SMA is of three types and associated with homozygous deletion of survival motor neuron gene in 5q 13. [1,2] The childhood SMA are important cause of mortality and morbidity with incidence of 1in 6000-10000 live births. [3] SMA is classified into three types; in type 1 severe generalized hypotonia is present.…”

Section: Introduction: Discussionmentioning

confidence: 99%

Spinal Muscular Atrophy

Rai¹,

Bhalke²,

Hajela³

2015

jemds

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ABSTRACT:Spinal muscular atrophy is genetic disorder in which anterior horn cells in spinal cord and motor nuclei of brain stem are progressively lost. The mechanism is defect in programmed cell death, wherein the deletion of cells (A normal process during gestation) continues after birth. We are reporting a case of 25 month old male with spinal muscular atrophy type 2.25 month old male presented with generalized hypotonic born at term gestation, product of non-consanguineous marriage, with developmental delay.On examination muscular atrophy was present in bilateral lower limbs, generalised hypotonia present. Deep tendon reflexes absent. Power grade 3 in lower limbs and grade 4 in upper limbs. Genetic study showed deletion of exon 7 & 8 of SMN1 gene. EMG showed neurogenic pattern of fibrillation.

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“…Electromyography can be done but is generally not required when genetic studies are confirmatory. Various mutations have been defined in a study conducted in Ahmadabad, Gujarat by Sheth et al 4 from January 2008 to August 2012, where 105 patients were studied. A definite diagnosis of SMA was found in 65 (62%) of the patients.…”

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confidence: 99%