Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

Hamilton, Mark J. D.; Longman, Cheryl; O'Hara, Ann M; Kirkpatrick, Martin; McWilliam, Robert

doi:10.1016/j.nmd.2014.10.005

Cited by 14 publications

(12 citation statements)

References 17 publications

(23 reference statements)

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“…Respiratory distress resulting from irreversible phrenic denervation requires mechanical ventilation from early stages until death, which usually occurs in the first years of life. Unusual prolonged survival has been reported in some patients upon mechanical ventilation (from 4.5 to 21 years of age) due to exemplary care [ 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up

B¹,

Jm²,

Navarro³

et al. 2016

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Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia. Aims: To describe the clinical, electrophysiological, neuropathological, and genetic findings, at different stages from birth to death, of a Spanish child diagnosed with SMARD1. Patient and methods: We report the case of a 3-month-old girl with severe respiratory insufficiency and, later, intense hypotonia. Paraclinical tests included biochemistry, chest X-ray, and electrophysiological studies, among others. Muscle and nerve biopsies were performed at 5 and 10 months and studied under light and electron microscopy. Post-mortem examination and genetic investigations were performed. Results: Pre- and post-mortem histopathological findings demonstrated the disease progression over time. Muscle biopsy at 5 months of age was normal, however a marked neurogenic atrophy was present in post-mortem samples. Peripheral motor and sensory nerves were severely involved likely due to a primary axonal disorder. Automatic sequencing of IGHMBP2 revealed a compound heterozygous mutation. Conclusions: The diagnosis of SMARD1 should be considered in children with early respiratory insufficiency or in cases of atypical SMA. Direct sequencing of the IGHMBP2 gene should be performed.

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Section: Discussionmentioning

confidence: 99%

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up

B¹,

Jm²,

Navarro³

et al. 2016

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“…This patient uses a ventilator only at night, and her cognitive skills are unaffected 18. After having achieved the ability to crawl and stand with support, she was clinically diagnosed at the age of 16 months after presenting with mild right hemidiaphragm eventration upon chest X-ray and a clinical picture of cough, wheeze and signs of respiratory distress.…”

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confidence: 99%

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Saladini

Nizzardo

Govoni

et al. 2019

J Cellular Molecular Medi

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ-binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of life. The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required. No effective treatment is available yet, but novel therapeutic approaches, such as gene therapy, have shown encouraging results in preclinical settings and thus represent possible methods for treating SMARD1. Significant advancements in the understanding of both the SMARD1 clinical spectrum and its molecular mechanisms have allowed the rapid translation of preclinical therapeutic strategies to human patients to improve the poor prognosis of this devastating disease.

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“…There are a few reports revealing SMARD1 patients with survival into the second decade of age. 9,15,16 IGHMBP2 is a unique gene that encodes the immunoglobulin mu-binding protein 2 on chromosome 11q13 and consists of 15 exons. IGHMP2 acts as a 5′-3′ RNA/DNA helicase and with loss of its function will lead to the prevention of DNA replication and hence protein production.…”

Section: Discussionmentioning

confidence: 99%

Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency

Zoham

Eghbalkhah

Kamrani

et al. 2018

J Pediatr Intensive Care

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder that involves the anterior horn motor neurons. It is a disease with a poor prognosis presenting with progressive distal motor weakness and respiratory insufficiency from diaphragmatic paralysis followed by distal muscle weakness before 6 months of age. With the intent to spread the awareness of this rare and life-threatening disease, we report a 2.5-month-old female infant with a subsequent diagnosis of SMARD1, who was admitted in our pediatric intensive care unit with chief complaint of progressive respiratory distress and poor feeding.

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Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

Cited by 14 publications

References 17 publications

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency

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