Cervical spinal nerves C1, C2 and C3 help control the movements of the head and neck. Cervical spinal nerve C4 helps control upward shoulder movements. Cervical spinal nerve C3, C4 and C5 help power the diaphragm and aid in breathing. ... Post-surgery, 93 to 100 percent patients report reduced cervicocranical syndrome symptoms such as neck pain. [23] [24] [25] Epidemiology [ edit ] Cervicocranial syndrome significantly affects the aging world population and is associated with significant morbidity. [25] It affects men and women equally when occurring due to atlanto-occipital assimilation. [26] Increased incidences among low-socioeconomic groups and among groups that do not have access to healthcare show subsequently higher rates of morbidity and mortality. [25] Research Directions [ edit ] Cervicocranial syndrome can be caused with or as a result of numerous neurological problems so not one single disease can be pinpointed.
ESR was elevated at 35 mm/hour; cardiolipin IgM was weakly positive at 16.3;C4 was decreased at 10 mg/dl; antinuclear antibodies were negative and p-ANCA was reactive.
Even though some patients suffering from Ghosal hematodiaphyseal dysplasia had difficulty walking, this is not a consistent symptom found with people affected by the disease, even though it is a crucial characteristic of Englemann disease. [7] Some patients had low hemoglobin values suffering from Englemann disease. ... A decrease in Thromboxane-A synthase leads to an increase in prostaglandin E2 levels which may affect erythroid precursor cells by suppressing them which likely leads to refractory anemia. [15] There are still unanswered questions about the effect of a compromised TBXAS1 gene function and its affect in Ghosal hematodiaphyseal dysplasia. [4] Treatment [ edit ] Blood transfusions can treat the low levels of hemoglobin in patients, but symptoms usually come back in irregular intervals. [8] A consistent treatment most patients receive is a low-dose corticosteroid treatment, with a range between 0.1 mg/kg/day to 1.5 mg/kg/day to maintain hemoglobin and white blood cells at normal levels in the blood throughout life. ... External links [ edit ] Classification D OMIM : 231095 MeSH : C565551 DiseasesDB : 34928 External resources Orphanet : 1802 v t e Eicosanoid metabolism disorders Prostanoids PTGIS ( Essential hypertension ) TBSAX1 ( Ghosal hematodiaphyseal dysplasia ) Leukotrienes LTC4s ( Leukotriene C4 synthase deficiency ) GGT1 ( Glutathionuria ) Other/ungrouped HPGD ( Primary hypertrophic osteoathropathy )
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia ). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin. Etiology GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Genetic counseling GHDD is transmitted as an autosomal recessive trait.
A number sign (#) is used with this entry because of evidence that Ghosal heamtodiaphyseal dysplasia (GHDD) can be caused by homozygous mutation in the TBXAS1 gene (274180), which encodes thromboxane synthase (TXAS), on chromosome 7q34. Clinical Features Ghosal et al. (1988) presented 5 patients with a particular form of diaphyseal dysplasia and refractory anemia. In spite of certain similarities to Camurati-Engelmann disease (131300), major differences were noted. Most notably, in Camurati-Engelmann disease, only the diaphyses are involved, whereas in the disorder described by Ghosal et al. (1988), both diaphyses and metaphyses were affected. Gumruk et al. (1993) described an affected brother and sister, aged 8 and 4 years, respectively, with diaphyseal dysplasia, severe anemia, leukopenia, and thrombocytopenia.
Prevention of primary manifestations: Individuals with the more severe forms are typically placed on a low-fat formula, with supplemental calories provided through medium-chain triglycerides. ... Plasma or dried blood spot comprehensive acylcarnitine analysis using tandem mass spectrometry and measuring C4-C20 straight-chain acyl-carnitine esters, 3-hydroxy-acyl carnitine esters, and unsaturated acyl-carnitine esters is most sensitive when collected during a period of metabolic stress, such as fasting. ... Specific missense pathogenic variants leading to low long-chain fatty acid oxidation flux may also be associated with cardiac disease [Diekman et al 2015]. ... Prevention of Primary Manifestations Individuals with the more severe forms of VLCAD deficiency are typically placed on a low-fat formula, with supplemental calories provided through medium-chain triglycerides (MCT). A variety of strategies for the low-fat diet are used, ranging from 13%-39% of calories as total fat, with an additional 15%-18% of calories supplied as MCT oil in those most strictly restricted for long-chain fats [Solis & Singh 2002].
Management and treatment Dietary treatment along with strict avoidance of fasting is essential in infants/children and involves a low long-chain fat diet in combination with medium chain triglycerides.
Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness.
Total plasma carnitine concentration was low. The findings suggested a defect in mitochondrial fatty acid oxidation. ... As in medium-chain acyl-CoA dehydrogenase deficiency, dicarboxylic acids in the urine and relatively low urinary beta-hydroxybutyrate levels were formed by omega-oxidation of fatty acids in the cytoplasm. ... LCAD deficiency had been documented in the fibroblasts from the patient and treatment with frequent low-fat high-carbohydrate feedings, riboflavin, and carnitine reduced the frequency and intensity of crises. ... Biochemical analysis confirmed that all 13 patients had low enzymatic activity and reduced amounts of VLCAD protein. ... After initial treatment with intravenous glucose and carnitine, the patient thrived on a low-fat diet supplemented with medium-chain triglyceride oil and carnitine and avoidance of fasting.
All of which cause the enzyme to function differently in the mitochondria, or in some cases not at all. [4] Due to this mutation, effective levels of very long-chain-acyl-CoA-dehydrogenase are low or absent in the body, giving rise to the array of symptoms listed above. [4] [7] Genetics [ edit ] Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase. ... Diagnosis [ edit ] Typically, initial signs and symptoms of this disorder occur during infancy and include low blood sugar ( hypoglycemia ), lack of energy ( lethargy ), and muscle weakness. ... Hospitalization due to VLCAD deficiency can be treated with intravenous (IV) glucose for hydration and alkalization of urine and prevention of renal malfunction or failure. [10] Avoidance of fasting periods, high-fat diets, and dehydration is recommended for those who are affected. A diet consisting of low-fat intake and supplemental calories is common for management of VLCAD deficiency.
Early components of the classical complement pathway ( C1q or C4 ) are usually not seen. Electron microscopy confirms electron-dense deposits in the mesangium that may extend to the subendothelial area of adjacent capillary walls in a small subset of cases, usually those with focal proliferation. ... The events that tend to progressive kidney failure are not unique to IgA nephropathy and non-specific measures to reduce the same would be equally useful. These include low-protein diet and optimal control of blood pressure . ... It is the most common glomerular disease in the Far East and Southeast Asia , accounting for almost half of all the patients with glomerular disease. [ citation needed ] However, it accounts for only about 25% of the proportion in Europeans and about 10% among North Americans, with African–Americans having a very low prevalence of about 2%. [ citation needed ] A confounding factor in this analysis is the existing policy of screening and use of kidney biopsy as an investigative tool. ... Associations described include those with C4 null allele, factor B Bf alleles, MHC antigens and IgA isotypes.
IgA nephropathy is a kidney disorder that occurs when IgA (immunoglobulin A), a protein that helps the body fight infections, settles in the kidneys. IgA nephropathy can occur at any age, even in childhood. After many years, deposits of IgA may cause the kidneys to leak blood and sometimes protein in the urine. In the early stages, IgA nephropathy has no symptoms. The first sign of this condition may be blood in the urine. After 10 to 20 years, the kidneys may show signs of damage and 20-40% of adults develop end-stage kidney disease. In most instances, the cause of this condition is unknown; however, certain disorders have been linked with IgA nephropathy, such as cirrhosis of the liver , celiac disease , and HIV infection .
In these persons a dysfunctional C1q molecule was characterized by low molecular weight and antigenic deficiency. ... Total complement activity (CH50) was not detectable, but C3 and C4 levels were normal. Reviews Rother (1986) gave a summary of reported deficiencies of components of complement.
C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis . C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex . This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein.
For example, during a functional neck dissection that injures the spinal accessory nerve, injury prompts the surgeon to cautiously preserve branches of C2, C3, and C4 spinal nerves that provide supplemental innervation to the trapezius muscle. [3] Alternatively, or in addition to intraoperative procedures, postoperative procedures can also help in recovering the function of a damaged spinal accessory nerve.
Barraquer–Simons syndrome Other names Acquired partial lipodystrophy , [1] Cephalothoracic lipodystrophy , [1] and Progressive lipodystrophy [1] Specialty Endocrinology Barraquer–Simons syndrome is a rare form of lipodystrophy , which usually first affects the head, and then spreads to the thorax. [2] [3] It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician. [4] [5] [6] Some evidence links it to LMNB2 . [7] Contents 1 Causes 2 Diagnosis 2.1 Diagnostic criteria 3 Treatment 4 Prognosis 5 Epidemiology 6 See also 7 References 8 External links Causes [ edit ] The etiology of this condition has not been fully elucidated. [8] Lipodystrophy is often associated with glomerulonephritis, low C3 serum complement levels, and the presence of a C3 nephritic factor. ... Although uncommon, lipid abnormalities can occur in the form of raised triglyceride levels and low high-density lipoprotein cholesterol levels. Patients usually have decreased serum C3 levels, normal levels of C1 and C4, and high levels of C3NeF (autoantibody), which may indicate the presence of renal involvement. ... The prevalence rates of diabetes mellitus and impaired glucose tolerance were 6.7% and 8.9%, respectively. Around 83% of APL patients had low complement 3 (C3) levels and the presence of polyclonal immunoglobulin C3 nephritic factor. ... Susceptibility to bacterial infections probably results from a C3 deficiency (due to complement activation and consumption of C3). Low C3 levels may impair complement-mediated phagocytosis and bacterial killing.
., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913). ... Hegele et al. (2006) reported 4 unrelated patients with partial lipodystrophy without low serum C3 and without renal disease.
The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor. ... Mesangiocapillary glomerulonephritis is reported in one third of patients and is associated with low complement-component 3 (C3) serum levels and the presence of C3-nephritic factor. ... Measurement of serum complements and autoantibodies (low C3 and presence of C3-nephritic factor), absence of family history of lipodystrophy, an onset during childhood/adolescence, and biopsy may support diagnosis.
Barraquer-Simons syndrome , or acquired partial lipodystrophy , is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis .
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C4; MDDGC4), also known as LGMDR13 and LGMD2M, is caused by homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN; 607440) on chromosome 9q31.
A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
Tsao et al. (1997) cited reports demonstrating that certain MHC class II alleles, as well as homozygosity for deficiency of complement genes C1Q (120550), C2 (613927), and C4 (120810), are associated with SLE in most ethnic groups studied.
Two brothers born to nonconsanguineous parents had vertebral segmentation defects affecting the posterior elements of C1-C4, hemivertebrae and butterfly vertebrae of T2-T7 (see Figure 7). ... Clinical images of affected individuals A-C. 3D-CT of male age 15 months with SDV, showing failure of formation of the posterior elements of C1 to C4 with descent of the occipital bone, resulting in canal stenosis and cord compression Establishing the Diagnosis The diagnosis of AR SCDO is established in a proband with the above radiographic features and identification of biallelic pathogenic variants in one of the genes listed in Table 1 on molecular genetic testing.
Measurement of 7α-Hydroxy-4-cholesten-3-one , (C4), a bile acid precursor, in serum, shows the increased bile acid synthesis found in bile acid malabsorption. [15] This test is an alternative diagnostic means when available. Fasting blood FGF19 values may have value in the recognition of the disease and prediction of response. [16] The various biomarkers give similar diagnostic yields of around 25% in patients with functional bowel disorders with diarrhea. [17] In countries such as the USA, where SeHCAT is not available, fecal bile acids and C4 are available to make the diagnosis. [17] Classification [ edit ] Bile acid malabsorption was first recognized in patients with ileal disease . [18] When other causes were recognized, and an idiopathic, primary form described, [19] a classification into three types was proposed: [20] Type 1: Bile acid malabsorption, secondary to ileal resection, or ileal inflammation (e.g. in Crohn's disease ) Type 2: Idiopathic bile acid malabsorption, Primary bile acid diarrhea Type 3: Secondary to various gastrointestinal diseases including cholecystectomy , vagotomy , small intestinal bacterial overgrowth , radiation enteropathy , celiac disease , chronic pancreatitis , etc.
Although MRI of the spinal cord was normal in the son, MRI in the mother showed signal changes at C4-C5. Rigamonti et al. (2004) reported a sporadic case of Hirayama disease in a 20-year-old Italian man.
Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. Epidemiology The prevalence is unknown. It is seen mainly in Asian countries (particularly in Japan and India) with only a very few cases reported in Europe and the United States. A nation-wide survey conducted from 1996 to 1998 in Japan found 333 identified cases with the estimated prevalence being approximately 1/33, 300. Clinical description MA is seen more frequently in males (male to female ratio of 20:1) with an age of onset in the second to third decade of life (ages 14-25). Muscle weakness and wasting begins in the hand or forearm on one side.
Monomelic amyotrophy Other names Juvenile muscular atrophy of distal upper extremity, Hirayama disease, spinal muscular atrophy juvenile nonprogressive Cervical spine Monomelic amyotrophy (MMA), is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males (average age of onset, 15- to 25-year-old). MMA is reported most frequently in Asia but has a global distribution. It is typically marked by insidious onset of muscle atrophy of an upper limb, which plateaus after two to five years from which it neither improves nor worsens. There is no pain or sensory loss associated with MMA. MMA is not believed to be hereditary . [1] [2] [3] [4] Both the names for the disorder and its possible causes have been evolving since first reported in 1959.
Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement ( skeletal muscles ). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. Symptoms of the disease typically begin between the ages of 14-25 years-old. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females.
Management includes a high-calorie diet low in propiogenic amino acid precursors; hydroxocobalamin intramuscular injections; carnitine supplementation; antibiotics such as neomycin or metronidazole to reduce propionate production from gut flora; gastrostomy tube placement as needed; and aggressive treatment of infections. ... In a recent natural history study, the mean FSIQ of all individuals with isolated methylmalonic acidemia (n = 37) was 85.0 ± 20.68, which is in the low average range (80 ≤ IQ ≤89). Individuals with cblA (n = 7), cblB (n = 6), and mut diagnosed prenatally or by newborn screening (n = 3) had mean FSIQs in the average range (90 ≤ IQ ≤109). ... Follow up revealed resolution in more than 50% of children, as well as an apparently benign, persistent, low-moderate methylmalonic acidemia in some [Ledley et al 1984, Sniderman et al 1999]. ... Individuals with this disorder almost always have increased plasma concentrations of homocysteine and methylmalonic acid, with low levels of methionine, and historically a highly variable age of onset. ... The mother does not necessarily have a very low serum concentration of vitamin B 12 .
Mut0 is a nonresponsive variant. [6] Treatment [ edit ] Dietary [ edit ] Treatment for all forms of this condition primarily relies on a low-protein diet, and depending on what variant of the disorder the individual suffers from, various dietary supplements. ... The carnitine also assists in the removal of acyl-CoA, buildup of which is common in low-protein diets by converting it into acyl-carnitine which can be excreted in urine.
Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation.
Mice lacking C1q (C1QA; 120550) in the classical pathway, C4 (C4A; 120810) in the classical and mannose-binding lectin (MBL; 154545) pathways, or factor B (CFB; 138470) or factor D (CFD; 134350) in the alternative pathway had increased mortality, suggesting all pathways function to limit WNV spread.
An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.
West Nile encephalitis is a form of West Nile virus that affects the neurological system. Signs and symptoms may include headache, fever, neck stiffness, disorientation, tremors, seizures, paralysis, or coma. West Nile virus is generally spread to humans by infected mosquitos. West Nile encephalitis, specifically, occurs when the virus crosses the blood-brain barrier and infects the central nervous system. Although West Nile encephalitis can affect anyone, people who are over age 60, have received an organ transplant, or are affected by certain medical conditions such as cancer, diabetes, hypertension, and kidney disease have the highest risk of developing the condition. Treatment is supportive and hospitalization may be required to address the associated symptoms.
These mediators include histamine ; leukotrienes C4, D4, and E4; and a host of cytokines . ... The more severe the airway obstruction, the more likely ventilation-perfusion mismatching will result in impaired gas exchange and low levels of oxygen in the blood . Diagnosis [ edit ] Severe Acute Asthma can be diagnosed by a primary care physician (PCP).
Patients with CHS also have a sensitivity to sedatives and narcotics, which makes respiration even more difficult. A low concentration of oxygen in the red blood cells also may cause hypoxia-induced pulmonary vasoconstriction and pulmonary hypertension, culminating in cor pulmonale or a failure of the right side of the heart. [8] Associated complications may also include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities, episodes of fainting, and temperature disregulation. [9] Causes [ edit ] CHS is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma or injury (such as after an automobile accident , stroke , asphyxiation , brain tumor , encephalitis , poisoning , as a complication of neurosurgery ) or due to particular neurodegenerative conditions such as Parkinson's disease , multiple system atrophy , or multiple sclerosis . ... Res . 58 (1): 1–6. doi : 10.1203/01.PDR.0000166755.29277.C4 . PMID 15901893 . ^ Todd ES, Weinberg SM, Berry-Kravis EM, et al. (2006).
Minutillo et al. (1989) described a patient and pointed out possibly distinctive facial features (antimongoloid slanting eyes, triangular mouth, small nose, and low-set, posteriorly rotated ears). Familial depression of ventilatory response to hypoxia and hypercapnia (267480) and familial lethal sleep apnea (207720) are disorders of possibly related nature.
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms). Epidemiology Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases. Clinical description Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Etiology Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.
Cervical MRI and CT scans showed a dense pseudoarthrosis with odontoid dysplasia, a hypoplastic atlantal arch, and narrowed intervertebral foramina in segments C2-C4. Anterior, and especially posterior, ligamentous structures in segments C1-C3 were thickened and caused spinal cord compression with central signal hypodensities. ... Edema of the neck and back in the next pregnancy led to a presumptive diagnosis of MPS VII, which was confirmed by the finding of very low enzyme activity in chorionic villus cells.
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head (macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse ," and a large tongue (macroglossia ).
A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease. Epidemiology The prevalence at birth is reported to range between 1/345,000 -5,000,000. However, the frequency of the disease may be underestimated as the most frequent presentation is the antenatal form, which remains underdiagnosed. Clinical description Signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, small stature and severe hypotonia and neurological involvement that ultimately lead to profound intellectual deficit in patients who survive.