Severe Respiratory Insufficiency: Causes & Reasons

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]

Charcot-Marie-Tooth Disease Type 2H

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]

Combined Oxidative Phosphorylation Defect Type 37

Congenital Disorder of Glycosylation Type 1X

In the former group, three patients lost their ability to walk during adulthood because of severe kyphoscoliosis causing respiratory insufficiency, depression and possible [ojrd.biomedcentral.com]

Nemaline Myopathy Type 9

respiratory insufficiency. [spandidos-publications.com]

insufficiency. [rarediseases.org]

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]

Adult-Onset Nemaline Myopathy

insufficiency. [rarediseases.org]

Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita (joint contractures, which are permanent shortening of a muscle) often lead to death [rarediseases.org]

Affected infants have progressive muscle weakness, a severely deformed chest with a prominent sternum (pectus carinatum), muscle wasting (atrophy) and life-threatening respiratory [rarediseases.org]

Nemaline Myopathy Type 8

insufficiency. [rarediseases.org]

respiratory insufficiency. [spandidos-publications.com]

The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. [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 [onlinelibrary.wiley.com]

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]

Nemaline Myopathy Type 5

Prognosis Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency. Visit the Orphanet disease page for more resources. [rareguru.com]

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

There is a wide spectrum of severity and classically patients have been divided into 6 groups; “Severe” with neonatal respiratory insufficiency, contractures or absent movement [childrenshospital.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. [open.uns.ac.rs]

These cases are referred to as severe types of CCMS. In this paper we present a female infant with severe type of CCMS. [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]

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]

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]

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]

Nasal Tuberculosis

Severe respiratory insufficiency was only seen in the patient who died. [erj.ersjournals.com]

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]

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]

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

respiratory insufficiency. [spandidos-publications.com]

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]

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]

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]

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]

Respiratory insufficiency can occur. [accessanesthesiology.mhmedical.com]

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

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]

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]

Nemaline Myopathy Type 2

Although some patients did not reach adult age, we present here a case who had several episodes of respiratory insufficiency but reached age 50 with very thin body bulk and [link.springer.com]

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]

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]

Nemaline Myopathy Type 1

insufficiency. [rarediseases.org]

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]

Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita (joint contractures, which are permanent shortening of a muscle) often lead to death [rarediseases.org]

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]

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]