Karet et al. (1999) studied the distal renal tubular acidosis syndrome with deafness in 4 outbred kindreds with 2 or more affected sibs and in 27 kindreds with parental consanguinity, of which 7 had more than 1 affected individual.
A number sign (#) is used with this entry because autosomal recessive distal renal tubular acidosis (dRTA) with preserved hearing or late-onset sensorineural hearing loss is caused by homozygous mutation in the ATP6N1B gene (ATP6V0A4; 605239) on chromosome 7q34. Clinical Features The maintenance of body fluid pH within a narrow range is critical for a wide variety of essential biochemical and metabolic functions. The kidney plays a key role in this homeostasis under normal circumstances, owing to its ability to vary bicarbonate reclamation and net acid excretion over a wide range. In the renal tubular acidoses (RTAs), however, acid-base balance becomes deranged either because of inability to secrete acid in the distal nephron or because of proximal bicarbonate loss (267200). Primary distal RTA is characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron.
An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. Epidemiology The prevalence is unknown. Clinical description Disease onset usually occurs in infancy or early childhood with polyuria, polydipsia, weakness and fatigue. Failure to thrive, rickets and stunting of growth (resulting from a loss of calcium salts from the bones) are common manifestations of the disease and can lead to progressive bone disease in adults. Some patients can be asymptomatic. Deafness may occur very early or later in life.
Heterogeneity Lewandowski and Yunis (1977) made the interesting observation that, among the chromosomal syndromes, postaxial polydactyly occurs almost exclusively with trisomy 13, in which about 75% of cases show this feature.
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.
Biallelic mutation in the MPV17 gene can also cause mitochondrial DNA depletion syndrome-6 (MTDPS6; 256810), a much more severe disorder with brain and liver involvement that usually leads to early death.
These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI).
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern. There is currently no treatment to correct the underlying metabolic problem.
A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue.
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals. Frequency Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.
Type 2 patients are characterized by normal fibroblast carboxylase activities at all biotin concentrations; a variable infantile-onset syndrome resembling biotin deficiency states; and a possible primary or secondary absorptive defect.
Holocarboxylase synthetase deficiency Other names Early-onset multiple carboxylase deficiency [1] Biotin Specialty Medical genetics , endocrinology Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. [2] This disorder is classified as a multiple carboxylase deficiency , a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency and treatment – large doses of biotin – is also the same. [ citation needed ] Contents 1 Symptoms and signs 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 External links Symptoms and signs [ edit ] This section is empty. You can help by adding to it . ( May 2017 ) Genetics [ edit ] Holocarboxylase synthetase deficiency has an autosomal recessive pattern of inheritance. Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene makes an enzyme , holocarboxylase synthetase , that attaches biotin to other molecules.
A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death. Epidemiology The exact prevalence of holocarboxylase synthertase deficiency (HCSD) is unknown, but the condition is one of the rarest inborn errors of metabolism. Prevalence at birth is estimated to be less than 1/200,000. Clinical description Clinical onset is usually within hours, days or weeks of birth, although it may occur during infancy or early childhood. Individuals with the disorder usually exhibit poor appetite, vomiting, lethargy, irritability, hypotonia and exfoliative dermatitis. Metabolically, they have ketolactic acidosis, organic acidemia (-uria) and hyperammonemia.
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications.
The well illustrated features were typical of Grebe syndrome. Molecular Genetics Thomas et al. (1997) used the candidate gene approach to identify the genetic defect in Grebe type chondrodysplasia.
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
Conditions that may lead to dysarthria include: Amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease) Brain injury Brain tumor Cerebral palsy Guillain-Barre syndrome Head injury Huntington's disease Lyme disease Multiple sclerosis Muscular dystrophy Myasthenia gravis Parkinson's disease Stroke Wilson's disease Some medications, such as certain sedatives and seizure drugs, also can cause dysarthria.
.), brainstem (from which the cranial nerves originate), or the neuromuscular junction (in diseases such as myasthenia gravis ) which block the nervous system 's ability to activate motor units and effect correct range and strength of movements. [ citation needed ] Causes: [ citation needed ] Brain tumor Cerebral palsy Guillain–Barré syndrome Hypothermia Lyme disease Stroke Idiopathic intracranial hypertension (formerly known as pseudotumor cerebri) Tay–Sachs disease , and late-onset Tay–Sachs disease (LOTS) Diagnosis Classification Dysarthrias are classified in multiple ways based on the presentation of symptoms.
Ten patients were diagnosed clinically with Ohtahara syndrome (see 308350). EEG of most patients showed a suppression-burst pattern; 3 patients had hypsarrhythmia.
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
The infection is usually a sum of three codependent factors: stress, an underlying viral infection, and a new bacterial infection. [2] The diagnosis of the disease is complex since there are multiple possible causes. [3] The disease manifests itself most often in calves within four weeks of weaning , when calves are sorted and often sold to different farms; a common nickname for BRD is "shipping fever." [4] [a] It is not known whether the stress itself, co-mingling, or travel conditions are at most to blame, and while studies have identified general stressing factors like transport and cold weather conditions, there is still no conclusive evidence on more specific factors (e.g. distance, transport mode, temperature, or temperature volatility). [6] Contents 1 Causes 2 Clinical signs and diagnosis 3 Treatment and control 3.1 Vaccination 3.2 Antibiotics 3.3 Stress management 4 See also 5 Notes 6 References Causes [ edit ] BRD is a "multi-factorial syndrome" that is dependent on a number of different causes. [7] The pathologic condition commonly arises where the causative organism becomes established by secondary infection, following a primary bacterial or viral infection, which may occur after stress , e.g. from handling or transport. [8] Usually all three of these factors must be present in order to cause BRD. [9] Viral agents are often present in the herd for an extended time, with almost no symptoms, and only cause severe complications with a bacterial infection. [7] The bacterial agents most commonly linked with BRD are Mannheimia haemolytica , Pasteurella multocida , Histophilus somni , and Mycoplasma bovis . [7] M. haemolytica serovar A1 is known as a particularly common bacterial cause of the disease. [10] Viral agents include Bovine viral diarrhea (BVD), Infectious Bovine Rhinotracheitis (IBR), Bovine respiratory syncytial virus (BRSV), and Parainfluenza type-3 virus (PI-3). [11] Clinical signs and diagnosis [ edit ] BRD often develops within 4 weeks of cattle transport. [11] The biggest sign of the pneumonia that BRD causes is depression, shown as droopy ears, dull eyes, and social isolation.
One patient had Wolff-Parkinson-White syndrome (194200). The disease course was highly variable: 2 sibs died at ages 3 and 12 months, whereas 2 other sibs and an unrelated girl were alive in their teens with stable cardiac disease.
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
In Beagles this condition is also known as Beagle pain syndrome . [3] Eosinophilic meningoencephalomyelitis is seen mainly in Golden Retrievers . [12] CSF analysis shows predominantly eosinophils.
.; Ehl, S. (20 November 2014). "Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency" .
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A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.
Sulfonic acids : Acamprosate Religion and alcohol Christian views on alcohol alcohol in the Bible Islam and alcohol History Bratt System Related Index of alcohol-related articles Austrian syndrome Ban on caffeinated alcoholic beverages Brief intervention Gateway drug effect Last call Mood disorder Non-alcoholic fatty liver disease Self-medication Spins Sober companion Sober living houses Sobering center Town drunk Category
The most common reason for this profound change in personality is the traumatic brain injury (TBI). [1] Children, whose brain areas have been injured or damaged, may present attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD) and organic personality disorder. [3] Moreover, this disorder is characterised as "frontal lobe syndrome". This characteristic name shows that the organic personality disorder can usually be caused by lesions in three brain areas of frontal lobe .
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