Display Settings:

Format

Send to:

Choose Destination

Respiratory failure

MedGen UID:
505385
Concept ID:
CN002603
Finding
 
HPO: HP:0002878

Definition

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGRespiratory failure

Conditions with this feature

Duchenne muscular dystrophy
MedGen UID:
3925
Concept ID:
C0013264
Disease or Syndrome
The dystrophinopathies include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.
Progressive myositis ossificans
MedGen UID:
4698
Concept ID:
C0016037
Disease or Syndrome
Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009).
Leigh's disease
MedGen UID:
44095
Concept ID:
C0023264
Disease or Syndrome
Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998). Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (252010), complex II deficiency (252011), complex III deficiency (124000), complex IV deficiency (cytochrome c oxidase; 220110), or complex V deficiency (604273).
Werdnig-Hoffmann disease
MedGen UID:
21913
Concept ID:
C0043116
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMA associated with disease-causing mutations of SMN1 spans a continuum without clear delineation of subtypes. Nonetheless, classification by age of onset and maximum function achieved is useful for prognosis and management; subtypes include: SMA 0 (proposed), with prenatal onset and severe joint contractures, facial diplegia, and respiratory failure; SMA I, with onset before age six months; SMA II, with onset between age six and 12 months; SMA III, with onset in childhood after age 12 months and ability to walk at least 25 meters achieved; and SMA IV, with adult onset.
Desquamative interstitial pneumonia
MedGen UID:
65962
Concept ID:
C0238378
Disease or Syndrome
Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). See also usual interstitial pneumonitis (UIP; see 178500), which is associated with pulmonary fibrosis. Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001). With the advent of molecular genetic analysis, some cases of familial early-onset respiratory insufficiency associated with a pathologic diagnosis of DIP have been shown to result from congenital dysfunction of surfactant metabolism (see, e.g., SMDP1, 265120) due to mutations in genes involved in surfactant metabolism (Nogee et al., 2001; Whitsett and Weaver, 2002).
Metatrophic dysplasia
MedGen UID:
82699
Concept ID:
C0265281
Congenital Abnormality
Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones (Genevieve et al., 2008).
Mitochondrial trifunctional protein deficiency
MedGen UID:
87460
Concept ID:
C0342786
Disease or Syndrome
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003). See also isolated LCHAD deficiency (609016), which is caused by mutation in the HADHA gene.
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Myhre syndrome
MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011).
Spondylometaphyseal dysplasia X-linked
MedGen UID:
208672
Concept ID:
C0796172
Disease or Syndrome
Dwarfism, coarse facial features, sclerotic changes of the skull, contractures of the hips and knees, hyperextensibility of stubby and tapering fingers, kyphosis, scoliosis, pectus carinatum, ossification of the metaphyses of the long bones, flat vertebral crests, and delayed growth and mental development.
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are: lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and is the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Spondyloepiphyseal dysplasia with atlantoaxial instability
MedGen UID:
322238
Concept ID:
C1833603
Disease or Syndrome
Alpha-B crystallinopathy
MedGen UID:
324735
Concept ID:
C1837317
Disease or Syndrome
Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. A minority of individuals experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%.
Motor neuron disease with dementia and ophthalmoplegia
MedGen UID:
324986
Concept ID:
C1838253
Disease or Syndrome
Mitochondrial complex I deficiency
MedGen UID:
374101
Concept ID:
C1838979
Disease or Syndrome
Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998). Genetic Heterogeneity of Complex I Deficiency Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by Haack et al., 2012). However, the majority of cases are caused by mutations in nuclear-encoded genes (Loeffen et al., 2000; Triepels et al., 2001). Complex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (161015), NDUFV2 (600532), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFA2 (602137), NDUFA11 (612638), NDUFAF3 (612911), NDUFA10 (603835), NDUFB3 (603839), NDUFB9 (601445), and the complex I assembly genes B17.2L (609653), HRPAP20 (611776), C20ORF7 (612360), NUBPL (613621), and NDUFAF1 (606934). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (613622), ACAD9 (611103; see 611126), and MTFMT (611766; see 256000). X-linked inheritance is observed with mutations in the NDUFA1 gene (300078). Complex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (516000), MTND2 (516001), MTND3 (516002), MTND4 (516003), MTND5 (516005), MTND6 (516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; 535000) or Leigh syndrome (256000). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (590085).
Niemann-Pick disease type C2
MedGen UID:
335942
Concept ID:
C1843366
Disease or Syndrome
Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or pulmonary disease, have hypotonia and developmental delay. The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy (VSGP), and dementia. Dystonia and seizures are common. Dysarthria and dysphagia eventually become disabling, making oral feeding impossible; death usually occurs in the late second or third decade from aspiration pneumonia. Adults are more likely to present with dementia or psychiatric symptoms.
Lethal congenital contracture syndrome 2
MedGen UID:
334413
Concept ID:
C1843478
Disease or Syndrome
Oto-palato-digital syndrome, type II
MedGen UID:
337064
Concept ID:
C1844696
Congenital Abnormality
The otopalatodigital (OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type I (OPD1). Otopalatodigital syndrome type II (OPD2). Frontometaphyseal dysplasia (FMD). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD, females are less severely affected than related affected males. Males do not experience progression of skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. Prenatal lethality is most common in males with MNS. TODPD is a female limited condition, characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata.
Vacterl association with hydrocephalus
MedGen UID:
376400
Concept ID:
C1848599
Disease or Syndrome
VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515).
Thoracic dysplasia-hydrocephalus syndrome
MedGen UID:
338562
Concept ID:
C1848864
Disease or Syndrome
Respiratory underresponsiveness to hypoxia and hypercapnia
MedGen UID:
341453
Concept ID:
C1849430
Pathologic Function
Renal dysplasia - limb defects syndrome
MedGen UID:
376585
Concept ID:
C1849438
Disease or Syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2C
MedGen UID:
342947
Concept ID:
C1853710
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome 1
MedGen UID:
343044
Concept ID:
C1854052
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions Syndrome See also MMDS2 (614299), caused by mutation in the BOLA3 gene (613183) on chromosome 2p13; MMDS3 (615330), caused by mutation in the IBA57 gene (615316) on chromosome 1q42; and MMDS4 (616370), caused by mutation in the ISCA2 gene (615317) on chromosome 14q24.
Saito Kuba Tsuruta syndrome
MedGen UID:
383972
Concept ID:
C1856727
Disease or Syndrome
Muscular dystrophy, congenital, 1b
MedGen UID:
346746
Concept ID:
C1858118
Disease or Syndrome
Spinal muscular atrophy with respiratory distress 1
MedGen UID:
388083
Concept ID:
C1858517
Disease or Syndrome
Arthrogryposis, distal, with mental retardation and characteristic facies
MedGen UID:
347220
Concept ID:
C1859723
Disease or Syndrome
Ceroid lipofuscinosis neuronal 10
MedGen UID:
350481
Concept ID:
C1864669
Disease or Syndrome
The neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited, neurodegenerative, lysosomal storage disorders characterized by progressive intellectual and motor deterioration, seizures, and early death. Visual gvhmloss is a feature of most forms. Clinical phenotypes have been characterized traditionally according to the age of onset and order of appearance of clinical features into infantile, late-infantile, juvenile, adult, and Northern epilepsy (also known as progressive epilepsy with mental retardation [EPMR]). There is however genetic and allelic heterogeneity; a proposed new nomenclature and classification system has been developed to take into account both the responsible gene and the age at disease onset; for example, CLN1 disease, infantile onset and CLN1 disease, juvenile onset are both caused by mutations in PPT1 but with differing age of onset. The most prevalent NCLs are CLN3 disease, classic juvenile and CLN2 disease, classic late infantile (although prevalence varies by ethnicity and country of family origin): CLN2 disease, classic late infantile. The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and pyramidal signs. Visual impairment typically appears at age four to six years and rapidly progresses to light /dark awareness only. Life expectancy ranges from age six years to early teenage. CLN3 disease, classic juvenile. Onset is usually between ages four and ten years. Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign. Epilepsy with generalized tonic-clonic seizures and/or complex-partial seizures typically appears around age ten years. Life expectancy ranges from the late teens to the 30s. Other forms of NCL may present with behavior changes, epilepsy, visual impairment, or slowing of developmental progress and then loss of skills. The course may be extremely variable. Some genotype-phenotype information is available.
Combined oxidative phosphorylation deficiency 3
MedGen UID:
355842
Concept ID:
C1864840
Disease or Syndrome
Natural killer cell deficiency, familial isolated
MedGen UID:
351256
Concept ID:
C1864947
Disease or Syndrome
Natural killer cell and glucocorticoid deficiency with DNA repair defect is an autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of NK cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer (summary by Gineau et al., 2012).
Infantile nephronophthisis
MedGen UID:
355574
Concept ID:
C1865872
Disease or Syndrome
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent). About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus). Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.
Surfactant metabolism dysfunction, pulmonary, 1
MedGen UID:
368844
Concept ID:
C1968602
Disease or Syndrome
Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005). A clinically similar disorder characterized by respiratory distress (267450) can affect preterm infants, who show developmental deficiency of surfactant. Acquired PAP (610910) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (138960). Genetic Heterogeneity of Pulmonary Surfactant Metabolism Dysfunction See also SMDP2 (610913), caused by mutation in the SPTPC gene (178620) on 8p21; SMDP3 (610921), caused by mutation in the ABCA3 gene (601615) on 16p13; SMDP4 (300770), caused by mutation in the CSF2RA gene (306250) on Xp; and SMDP5 (614370), caused by mutation in the CSF2RB gene (138981) on 22q12.
Surfactant metabolism dysfunction, pulmonary, 3
MedGen UID:
410074
Concept ID:
C1970456
Disease or Syndrome
For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).
Charcot-Marie-Tooth disease type 2C
MedGen UID:
389170
Concept ID:
C2079540
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.
Krabbe disease atypical due to Saposin A deficiency
MedGen UID:
392873
Concept ID:
C2673266
Disease or Syndrome
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
MedGen UID:
462559
Concept ID:
C3151209
Disease or Syndrome
HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
MedGen UID:
462586
Concept ID:
C3151236
Disease or Syndrome
Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years (summary by Del Bigio et al., 2011).
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
MedGen UID:
462826
Concept ID:
C3151476
Disease or Syndrome
Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by Rouzier et al., 2010). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).
Multiple mitochondrial dysfunctions syndrome 2
MedGen UID:
482008
Concept ID:
C3280378
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy. Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MedGen UID:
482309
Concept ID:
C3280679
Disease or Syndrome
This disorder represents a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

Recent clinical studies

Etiology

Song J, Shao J, Qi HH, Song DW, Zhu W
Eur Rev Med Pharmacol Sci 2015 Jan;19(1):9-14. PMID: 25635969
Choi WI, Shehu E, Lim SY, Koh SO, Jeon K, Na S, Lim CM, Lee YJ, Kim SC, Kim IH, Kim JH, Kim JY, Lim J, Rhee CK, Park S, Kim HC, Lee JH, Lee JH, Park J, Koh Y, Suh GY; Korean Study group on Respiratory Failure (KOSREF)
J Crit Care 2014 Oct;29(5):797-802. Epub 2014 Jun 2 doi: 10.1016/j.jcrc.2014.05.017. [Epub ahead of print] PMID: 24997724
Parnell H, Quirke G, Farmer S, Adeyemo S, Varney V
Int J Chron Obstruct Pulmon Dis 2014;9:413-9. Epub 2014 Apr 30 doi: 10.2147/COPD.S54507. PMID: 24812505Free PMC Article
Sato K, Morimoto N, Deguchi K, Ikeda Y, Matsuura T, Abe K
J Clin Neurosci 2014 Aug;21(8):1341-3. Epub 2014 Feb 6 doi: 10.1016/j.jocn.2013.11.021. [Epub ahead of print] PMID: 24613427
Fischer JP, Shang EK, Butler CE, Nelson JA, Braslow BM, Serletti JM, Kovach SJ
Plast Reconstr Surg 2013 Nov;132(5):826e-835e. doi: 10.1097/PRS.0b013e3182a4c442. PMID: 24165634

Diagnosis

Parnell H, Quirke G, Farmer S, Adeyemo S, Varney V
Int J Chron Obstruct Pulmon Dis 2014;9:413-9. Epub 2014 Apr 30 doi: 10.2147/COPD.S54507. PMID: 24812505Free PMC Article
Galli JA, Krahnke JS, James Mamary A, Shenoy K, Zhao H, Criner GJ
Respir Med 2014 May;108(5):722-8. Epub 2014 Mar 20 doi: 10.1016/j.rmed.2014.03.006. [Epub ahead of print] PMID: 24702885
Sato K, Morimoto N, Deguchi K, Ikeda Y, Matsuura T, Abe K
J Clin Neurosci 2014 Aug;21(8):1341-3. Epub 2014 Feb 6 doi: 10.1016/j.jocn.2013.11.021. [Epub ahead of print] PMID: 24613427
Kattan J, González A, Becker P, Faunes M, Estay A, Toso P, Urzúa S, Castillo A, Fabres J
Pediatr Crit Care Med 2013 Nov;14(9):876-83. doi: 10.1097/PCC.0b013e318297622f. PMID: 23863822
Ortiz JR, Neuzil KM, Rue TC, Zhou H, Shay DK, Cheng PY, Cooke CR, Goss CH
Am J Respir Crit Care Med 2013 Sep 15;188(6):710-5. doi: 10.1164/rccm.201212-2341OC. PMID: 23855650

Therapy

Song J, Shao J, Qi HH, Song DW, Zhu W
Eur Rev Med Pharmacol Sci 2015 Jan;19(1):9-14. PMID: 25635969
Choi WI, Shehu E, Lim SY, Koh SO, Jeon K, Na S, Lim CM, Lee YJ, Kim SC, Kim IH, Kim JH, Kim JY, Lim J, Rhee CK, Park S, Kim HC, Lee JH, Lee JH, Park J, Koh Y, Suh GY; Korean Study group on Respiratory Failure (KOSREF)
J Crit Care 2014 Oct;29(5):797-802. Epub 2014 Jun 2 doi: 10.1016/j.jcrc.2014.05.017. [Epub ahead of print] PMID: 24997724
Parnell H, Quirke G, Farmer S, Adeyemo S, Varney V
Int J Chron Obstruct Pulmon Dis 2014;9:413-9. Epub 2014 Apr 30 doi: 10.2147/COPD.S54507. PMID: 24812505Free PMC Article
Fischer JP, Shang EK, Butler CE, Nelson JA, Braslow BM, Serletti JM, Kovach SJ
Plast Reconstr Surg 2013 Nov;132(5):826e-835e. doi: 10.1097/PRS.0b013e3182a4c442. PMID: 24165634
Kattan J, González A, Becker P, Faunes M, Estay A, Toso P, Urzúa S, Castillo A, Fabres J
Pediatr Crit Care Med 2013 Nov;14(9):876-83. doi: 10.1097/PCC.0b013e318297622f. PMID: 23863822

Prognosis

Choi WI, Shehu E, Lim SY, Koh SO, Jeon K, Na S, Lim CM, Lee YJ, Kim SC, Kim IH, Kim JH, Kim JY, Lim J, Rhee CK, Park S, Kim HC, Lee JH, Lee JH, Park J, Koh Y, Suh GY; Korean Study group on Respiratory Failure (KOSREF)
J Crit Care 2014 Oct;29(5):797-802. Epub 2014 Jun 2 doi: 10.1016/j.jcrc.2014.05.017. [Epub ahead of print] PMID: 24997724
Galli JA, Krahnke JS, James Mamary A, Shenoy K, Zhao H, Criner GJ
Respir Med 2014 May;108(5):722-8. Epub 2014 Mar 20 doi: 10.1016/j.rmed.2014.03.006. [Epub ahead of print] PMID: 24702885
Sato K, Morimoto N, Deguchi K, Ikeda Y, Matsuura T, Abe K
J Clin Neurosci 2014 Aug;21(8):1341-3. Epub 2014 Feb 6 doi: 10.1016/j.jocn.2013.11.021. [Epub ahead of print] PMID: 24613427
Fischer JP, Shang EK, Butler CE, Nelson JA, Braslow BM, Serletti JM, Kovach SJ
Plast Reconstr Surg 2013 Nov;132(5):826e-835e. doi: 10.1097/PRS.0b013e3182a4c442. PMID: 24165634
Ortiz JR, Neuzil KM, Rue TC, Zhou H, Shay DK, Cheng PY, Cooke CR, Goss CH
Am J Respir Crit Care Med 2013 Sep 15;188(6):710-5. doi: 10.1164/rccm.201212-2341OC. PMID: 23855650

Clinical prediction guides

Piesiak P, Brzecka A, Kosacka M, Jankowska R
Adv Exp Med Biol 2015;838:53-8. doi: 10.1007/5584_2014_68. PMID: 25315620
Choi WI, Shehu E, Lim SY, Koh SO, Jeon K, Na S, Lim CM, Lee YJ, Kim SC, Kim IH, Kim JH, Kim JY, Lim J, Rhee CK, Park S, Kim HC, Lee JH, Lee JH, Park J, Koh Y, Suh GY; Korean Study group on Respiratory Failure (KOSREF)
J Crit Care 2014 Oct;29(5):797-802. Epub 2014 Jun 2 doi: 10.1016/j.jcrc.2014.05.017. [Epub ahead of print] PMID: 24997724
Hosseinian L, Chiang Y, Itagaki S, Polanco A, Rhee A, Chikwe J
J Cardiothorac Vasc Anesth 2014 Jun;28(3):488-92. Epub 2013 Dec 2 doi: 10.1053/j.jvca.2013.07.023. [Epub ahead of print] PMID: 24295717
Burgos J, Luján M, Larrosa MN, Fontanals D, Bermudo G, Planes AM, Puig M, Rello J, Falcó V, Pahissa A
Eur Respir J 2014 Feb;43(2):545-53. Epub 2013 Jul 11 doi: 10.1183/09031936.00050413. [Epub ahead of print] PMID: 23845720
Fischer JP, Shang EK, Butler CE, Nelson JA, Braslow BM, Serletti JM, Kovach SJ
Plast Reconstr Surg 2013 Nov;132(5):826e-835e. doi: 10.1097/PRS.0b013e3182a4c442. PMID: 24165634

Recent systematic reviews

Mas A, Masip J
Int J Chron Obstruct Pulmon Dis 2014;9:837-52. Epub 2014 Aug 11 doi: 10.2147/COPD.S42664. PMID: 25143721Free PMC Article
Munshi L, Telesnicki T, Walkey A, Fan E
Ann Am Thorac Soc 2014 Jun;11(5):802-10. doi: 10.1513/AnnalsATS.201401-012OC. PMID: 24724902
Lin C, Yu H, Fan H, Li Z
Heart Lung 2014 Mar-Apr;43(2):99-104. doi: 10.1016/j.hrtlng.2014.01.002. PMID: 24594246
Burns KE, Meade MO, Premji A, Adhikari NK
Cochrane Database Syst Rev 2013 Dec 9;12:CD004127. doi: 10.1002/14651858.CD004127.pub3. PMID: 24323843
Zampieri FG, Mendes PV, Ranzani OT, Taniguchi LU, Pontes Azevedo LC, Vieira Costa EL, Park M
J Crit Care 2013 Dec;28(6):998-1005. Epub 2013 Aug 16 doi: 10.1016/j.jcrc.2013.07.047. [Epub ahead of print] PMID: 23954453

Supplemental Content

Table of contents

    Consumer resources

    Outreach and support

    Clinical Trials

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...