Severe Respiratory Insufficiency: Causes & Reasons

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Possible Causes for Severe Respiratory Insufficiency

Autosomal Recessive Centronuclear Myopathy 5

If respiratory insufficiency is compensated for, infants may survive beyond infancy, after which the weakness appears nonprogressive. [mda.org]

Respiratory insufficiency is frequently seen at birth so patients require ventilatory support. [neurologyindia.com]

[…] reflux, and respiratory insufficiency. [zdoc.site]

Powell-Venencie-Gordon Syndrome

Respiratory insufficiency can occur. Evaluate severity of the neurological and muscular lesions (clinical, electromyography, somatosensory, and motor evoked potentials). [accessanesthesiology.mhmedical.com]

Evaluate respiratory function (chest radiograph, pulmonary function test, arterial blood gas analysis). Intraoperative positioning must be careful. [accessanesthesiology.mhmedical.com]

Nemaline Myopathy Type 8

respiratory insufficiency. [spandidos-publications.com]

insufficiency. [rarediseases.org]

The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. [pubmed.ncbi.nlm.nih.gov]

Congenital Axonal Neuropathy with Encephalopathy

Four children died before age 3 years from respiratory insufficiency or aspiration pneumonia. The three surviving patients manifested severe developmental delay. [pubmed.ncbi.nlm.nih.gov]

Antenatal-Onset Multicore Myopathy with Arthrogryposis

Most patients (30 cases) shared a common highly consistent phenotype marked by the axial predominance of muscle weakness and a high occurrence of severe respiratory insufficiency [archive-ouverte.unige.ch]

Classic MmD has been described as an early-onset autosomal-recessive congenital myopathy where axial muscle weakness may lead to development of severe, life-threatening respiratory [fitness-vip.com]

insufficiency and scoliosis in two-thirds of patients. [fitness-vip.com]

Alpha-B Crystallinopathy

If the patient has a mutation in exon 343 of TTN, the patient will eventually develop a severe respiratory insufficiency. [path.upmc.edu]

Respiratory failure MedGen UID: 257837 • Concept ID: C1145670 • Disease or Syndrome A severe form of respiratory insufficiency characterized by inadequate gas exchange such [ncbi.nlm.nih.gov]

[…] pathological finding of necklace cytoplasmic bodies, sequencing of exon 343 of TTN should be considered for definite diagnosis of HMERF, even though the patient does not exhibit respiratory [path.upmc.edu]

Congenital Myopathy with Excess of Thin Filaments

[…] and respiratory insufficiency. [scripps.edu]

Like many of the other subtypes, there is a severe phenotype with respiratory insufficiency, severe weakness, and feeding difficulties, but no cardiac abnormalities. [emedicine.medscape.com]

insufficiency. [rarediseases.org]

Parana Hard-Skin Syndrome

All joints gradually become frozen and movement of the chest and abdomen is severely restricted. Respiratory insufficiency may lead to death. [omim.org]

Symptoms - Hard skin syndrome Parana type * Stiff skin * Severe growth retardation * Respiratory insufficiency Causes - Hard skin syndrome Parana type * Dry skin is a very [checkorphan.org]

The disorder is probably distinguishable from the stiff-skin syndrome ( 184900 ) by the severe growth retardation, more malignant course, and probable mode of inheritance. [omim.org]

Pompe Disease

Main findings are muscle weakness and severe respiratory insufficiency while cardiac involvement may be completely absent. [dx.doi.org]

Residual GAA enzyme activity may correlate with severity of phenotype but many adult patients sharing the same mutations present with a wide variability in residual enzyme [dx.doi.org]

Cerebro-Costo-Mandibular Syndrome

Depending on severity of deformities and consecutive respiratory insufficiency, in about 35–50% of CCMS cases, death occurs during the first year of life. [ncbi.nlm.nih.gov]

These cases are referred to as severe types of CCMS. In this case report we present a newborn with typical features of CCMS. [journalcmpr.com]

Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the [ncbi.nlm.nih.gov]

Nemaline Myopathy Type 6

Severe respiratory insufficiency is an uncommon development in nemaline myopathy, but a frequent complication of Duchenne’s muscular dystrophy. [pediatricneurologybriefs.com]

insufficiency. [rarediseases.org]

[…] with severe muscle weakness and hypotonia (2) respiratory insufficiency (3) difficulty sucking and swallowing (4) aspiration pneumonia (5) rarely cardiomyopathy or arthrogryposis [meducator3.net]

Thanatophoric Dysplasia

[…] head, frontal bossing, depressed nasal bridge, and narrow thoracic cage with severe respiratory insufficiency. [ncbi.nlm.nih.gov]

Death occurs usually within 48 hours and is due to severe respiratory insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or respiratory failure due to [emedicine.com]

Death in the neonatal period is due to severe respiratory insufficiency from reduced thoracic capacity or hypoplastic lungs or respiratory failure from brainstem compression [pubs.sciepub.com]

Nemaline Myopathy

The prognosis is poor due to severe respiratory insufficiency. [ncbi.nlm.nih.gov]

The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. [ncbi.nlm.nih.gov]

insufficiency. [ncbi.nlm.nih.gov]

Neonatal Acute Respiratory Distress due to SP-B Deficiency

Brasch et al. 7 reported a 13-month-old child with severe respiratory insufficiency associated with de novo missense mutation of SFTPC. [nature.com]

In the largest randomized trial completed to date, the OSIRIS (Open Study of Infants at High Risk of or With Respiratory Insufficiency - The Role of Surfactant) Collaborative [healio.com]

In our patient, this mutation was associated with early onset severe respiratory insufficiency and on autopsy was appeared as a nonspecific interstitial pneumonia. [nature.com]

Spondyloepiphyseal Dysplasia Congenita

Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death have [ohsu.pure.elsevier.com]

Several small series and case reports mention respiratory insufficiency or failure in a subset of patients with spondyloepiphyseal dysplasia congenita. [ncbi.nlm.nih.gov]

AB - Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death [ohsu.pure.elsevier.com]

Hypophosphatasia

Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. [ncbi.nlm.nih.gov]

Severe respiratory insufficiency was controlled by intensive respiratory care with high-frequency oscillation ventilation and nitric oxide inhalation and deep sedation just [ncbi.nlm.nih.gov]

respiratory insufficiency, secondary to rib cage malformations. [scinapse.io]

Nemaline Myopathy Type 5

Prognosis Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency. [rarediseases.info.nih.gov]

insufficiency. [rarediseases.org]

respiratory insufficiency. [spandidos-publications.com]

Holt-Oram Syndrome

We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth. [ncbi.nlm.nih.gov]

Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome. J Perinatol. 2005 Nov. 25(11):745-6. [Medline]. [emedicine.com]

Rigid Spine Syndrome

Death often occurs as a result of respiratory infection in a setting of severe respiratory insufficiency. [ncbi.nlm.nih.gov]

Like many of the other subtypes, there is a severe phenotype with respiratory insufficiency, severe weakness, and feeding difficulties, but no cardiac abnormalities. [emedicine.medscape.com]

Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity. [ncbi.nlm.nih.gov]

Batten-Turner Congenital Myopathy

The prognosis is poor due to severe respiratory insufficiency. [ingentaconnect.com]

insufficiency. [rarediseases.org]

respiratory insufficiency. [spandidos-publications.com]

Myopathy with Abnormal Lipid Metabolism

Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood [malacards.org]

respiratory insufficiency as a consequence of mechanical impairment. [err.ersjournals.com]

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas [malacards.org]

Spondylocostal Dysostosis

[…] defects A small chest which is unable to accommodate the growing lungs, leading to severe respiratory insufficiency (acute respiratory distress syndrome); such a complication [dovemed.com]

Severe deformities and abnormal fusion of ribs and vertebrae cause respiratory insufficiency and pneumonia. [ncbi.nlm.nih.gov]

However, if lung abnormalities cause respiratory insufficiency, then the prognosis may be poor. [dovemed.com]

Multicore Myopathy

Death often occurs as a result of respiratory infection in a setting of severe respiratory insufficiency. [ncbi.nlm.nih.gov]

Like many of the other subtypes, there is a severe phenotype with respiratory insufficiency, severe weakness, and feeding difficulties, but no cardiac abnormalities. [emedicine.medscape.com]

May develop early and severe scoliosis resulting in respiratory insufficiency requiring respiratory assistance [ Ferreiro et al 2002b ]. RYR1. [ncbi.nlm.nih.gov]

Methomyl Poisoning

After carbamate or organophosphate intoxication, the patient suffered from severe complications including neurological deficits, renal insufficiency, and severe respiratory [signavitae.com]

Infantile Botulism

Clinical severity can range from mild illness with gradual onset to severe respiratory insufficiency and death. [health.gov.au]

Severity varies from mild lethargy and slowed feeding to severe hypotonia and respiratory insufficiency. [merckmanuals.com]

Distal Spinal Muscular Atrophy Type 1

We report the case of a 3-monthold girl with severe respiratory insufficiency and, later, intense hypotonia. [ncbi.nlm.nih.gov]

insufficiency in the severe cases. [annalsofian.org]

The diagnosis of SMARD1 should be considered in children with early respiratory insufficiency or in cases of atypical SMA. [ncbi.nlm.nih.gov]

Pulmonary Consolidation

respiratory insufficiency is a known complication if a large portion of the lung is affected by this pathological process. [symptoma.com]

[…] gradually appear when chronic conditions are responsible for pulmonary consolidation, but they can also develop abruptly and cause a significant risk for the patient's life, as severe [symptoma.com]

Osteogenesis Imperfecta Type 3

Lethal OI may be associated with intracranial hemorrhage or severe respiratory insufficiency. [jhu.pure.elsevier.com]

Type II (lethal) OI is associated with severe neonatal respiratory insufficiency. Infants usually succumb during the first week of life. [clinicaladvisor.com]

In some cases, affected individuals may develop pulmonary insufficiency and respiratory problems. [rarediseases.org]

Micromelic Bone Dysplasia with Cloverleaf Skull

Death in the neonatal period is due to severe respiratory insufficiency from reduced thoracic capacity or hypoplastic lungs or respiratory failure from brainstem compression [pubs.sciepub.com]

Death occurs usually within 48 hours and is due to severe respiratory insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or respiratory failure due to [emedicine.medscape.com]

Limb-Girdle Muscular Dystrophy Type 1F

[…] and respiratory insufficiency. [uniprot.org]

Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. [ncbi.nlm.nih.gov]

The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency [uniprot.org]