Gene failure and degenerative ata loss

Article by Master, Dr Vu Duy Dung – General Internal Medicine Department – Share99 Times City International Health Hub

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Erratic is the term for a group of disorders that affect coordination, balance and voice. Symptoms and levels of unemployment depend on each cause of the disease, including gene failure and degenerative ata loss.

1. Gene-incalymed atacalym

There are many gene causes of ataca. Human Online Mendel Genetic Data (OMIM) can be a useful and up-to-date source of information for atath-loss genes. This is followed by an overview of the atath-loss genes based on the genetic type.

1.1 Abnormal chromochromotype gene failure

With the chromochromochromotype, the term SCA has been named, from typ 1 to typ 48 to the present day. Of these, primary cerebral unemployment caused by prolonged CAG iteration, including SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17, is the most common, accounting for about half of all dominant genetic unemployment. Ataperinal disorders that accompany an unusual iteration have prolonged iteration in uncooperable regions of the gene, such as SCA8, SCA10, and SCA12. The relatively rare rest are SCA's that are often accompanied by order variations in the encoding. Note that the whole exon sequence is best for detecting genetic sequence variations rather than repeated stretching. Therefore, determining the length of iteration in common SCA genes is the first step to diagnosing the SCA gene. If iteration is not found, the method of resolving the order should be the next step.

Each SCA has different clinical characteristics but also overlaps. Early SCA1 patients have difficulty swallowing and difficulty speaking. SCA2 patients often have slow glances, staggering of the torso, decreased reflexes, and tremors. SCA3 patients often have dysenterous dysenter, depression, restless leg syndrome, and Parkinson's syndrome. Classic SCA6 patients have only minor cerebral ataction without other non-cerebral symptoms. SCA7 patients have vision loss due to pigment retinal degeneration. SCA17 patients have dementia, sysentation and dysenteria. While these clinical symptoms are useful for aiming for accurate genetic diagnosis, there is a strong racial pretentation. For example, SCA2 is very common in Cuba, on the contrary SCAC3 is most commonly encountered in China, Portugal and Brazil. Different typs of SCA's have CAG iterations of varying rate of disease progress. For example, SCA1 progresses fastest, followed by SCA3 and SCA2. SCA6 has the slowest rate of progress in these typs.

Cag

Location of CAG iteration segments in primary t minor encephalic disease

The proposed pathology mechanism for SCA has a common CAG iteration of polyglutamine, and the accompanying iterative passages cause toxic effects on neurons or cause loss of normal function of the corresponding proteins. Inclusions in neurons can be found in SCA's with CAG iteration. However, the pathology mechanism of SCA has non-CAG iterations in non-coding regions that are believed to be primarily due to toxicity to RNA function. Finally, SCA's are accompanied by genetic sequence variations that are usually caused by protein dysfunction caused by genetic mutations.

1.2 Chromochromochromic dive gene failure

Chromochromochromotype genes can often be divided into three groups:

  • (1) Cerebral ataction with sensory neurological disease superiority
  • (2) Cerebral ataction of motor sensation neuron disease
  • (3) Cerebral ataction does not have sensory neurological diseases.

Therefore, the characteristics of the accompanying neurological disease are the key to the examination of the dive gene. The first disease for the primary cerebral unemployment group with the advantage of sensory neuropathic disease is Friedreich's failure, which is the most common genetic failure. Friedreich's ataction patients are of early childhood through the third decade and may also have concave feet, scoliosis, square wave eye jerks, and reduced tendon reflexes. About 15% of Friedreich's cases of atalerosis onclerosis, which can be accompanied by spasms and increased apparent tendon reflexes. Diabetes mellitus and cardicardiosis are also common in Friedreich's aasse. Friedreich's loss is caused by prolonged stretching of non-coding GAA iterations of the FXN gene, resulting in insufficient production of frataxin proteins and leading to medolic dysfunction. About 5% of Friedreich ataperable patients have an allele that carries a point mutation in the FXN gene, and other alleles have prolonged iteration. Therefore, a ningist still needs to highly doubt Friedreich's condition if iteration prolongation is detected only in one allele in patients with classic clinical symptoms of Friedreich's unemployment.

Scoliosis

Patients with Friedreich atath may present with scoliosis

Another relatively common means of diving genes is SANDO syndrome, caused by mutations in the POLG gene. The on-on-the-go age is adults with eyeball paralysis, lash collapse, muscle jerks, and seizures. Increased signaling on the T2 worm of the oval below the sides is sometimes visible on the brain MRI.

Another group of chromochromotype gene chromotypes is usually cerebral failure with motor sensation axial neuropathic disease. In this group, common diseases are vascular failure and atath with loss of use of typ 1 and typ 2. In addition to neurological diseases, vulsions, dysenteria, and spasms are common symptoms in this group. Α-Fetoprotein levels increase in vascular atacondosis and ataenos with loss of use of typ 2 eye movement, which can sometimes be used as a screening tool for these diseases. Patients with vascular atalic at increased risk for cancer and infection, along with radiation sensitivity.

The third group of recessive gene failure is the unemployment without sensory neurological disease, in which chromochromotype 1 is usually initiated in adults with signs of upper or lower motor neurons, concave feet, and scoliosis. Patients with Niemann-Pick typ C have characteristic itudinal ileal paralysis on the entile along with mental retinal retness, dysenteria, and cosentia.

1.3 X chroma-linked chroma

The most common X chromolic link failure is fragile X chromosommoth run-loss syndrome, caused by prolonged CGG iteration in the FMR1 gene, resulting in RNA toxicity. A further iteration of the FMR1 gene, as predicted, will lead to early ovarian failure in the patient's daughters and mental retness in the patient's grandsons.

Therefore, fragile X chroma syndrome should be placed against the backdrop of a family history of mental retness and early ovarian failure. Parkinson's syndrome and auto neurological disorders may also have; therefore, fragile X chromoosis tremor syndrome should be placed in a differential diagnosis from multiple systems. Increased signaling on T2 in the middle and pelvic sub-brain stalks on the brain MRI is characteristic of fragile X chromo symptom tremor syndrome and can help with diagnosis.

1.4 M medmed conditions

M m m m m m meddrimed DNA mutations can also cause atath. Common causes are Kearns-Sayre syndrome, muscle seizures with red fibrous disease, lactic acidosis, and stroke-like attacks (MELAS). Because of tissue-specific m medular defects (that is, soy-cell hem asymthemity), muscle biomedes need to be performed because medfective defects are more likely to be detected in unmaled cells, such as muscle cells.

Genetic map of m m m meddrial DNA

Genetic map of m m m m m med meddrial DNA in the human body

1.5 Failures

Ataper to each bout (typ 1 to 8) forms a group of gene causes of unemployment, lasting several minutes to several days. There may be inseded developmental failures along with developmental attacks. Some may be unable to control the attack that may be triggered by physical exertion. Gene mutations that accompany erbactivity are often in ion channels or cell membrane proteins that are important for neuron stimulation. The main differentive diagnoses considered for dyslethmosis are scattered sclerosis and mental atattosis.

1.6 A reasonable approach to the diagnosis of the atath gene

Despite rapid advances in genome and exon whole sequence technology, the first approach to genetic aeration diagnosis is a test that seeks to prolong the repetition because the failures that accompany this iteration are the most common (common chromotype dominant genes: SCA1, SCA2, SCA3 , SCA6; normal chromochromochromotype gene: Friedreich's atath; X chromochromochromolic link failure: fragile X chromolic run-loss syndrome), and variations in the length of the iteration will not be detected by the method of sysentation. After excluding the failures associated with the iteration, exon whole sequences can be very useful for identifying genetic sequence variations. Another limitation of exon whole sequenced analysis for ata failure is that this method is insensitive to large ruptures or duplications of chromotypes, as in SCA20, or to the loss that comes with m medomation gene mutations, or with prolonged iteration in uncoordized regions. A genetic diagnostic test for atacaly needed to go hand in hand with clinical manifestations for appropriate genetic tests.

The researchers conducted genetic sequence analysis in a large cohoring study of patients with no family history. It turns out that chromotype with mutations in the SYNE1 gene is the most common and, therefore, should always be thought of when experiencing retinal ataction in adults with diverse motor neuron signs such as increased tendon reflexes, foot stretching response, muscle atrophy , or muscle fibers. Recently also recognized genetic mutations in paralysis of the legs sometimes cause cerebral ataction. While these gene mutations are not grouped in SCA or dive gene failures, doctors must always keep these genes in mind. An example is the SPG7 mutation, which has been encountered in patients with sudden cerebral ataction.

Gen SYNE1

Diagram of mutations found in research involving SYNE1 domains

2. Degenerative loss

Degenerative forms of unemployment are common in patients over 60 years of age and have no family history of failure. In this group, multiple system atrophy and late oncinal primary ataction are the two most common diseases.

Multiple system atrophy is characterized by cerebral ataxia, Parkinson's syndrome, auto-neurological disorders (post-hypertension, erectile dysfunction, and urinary inslexia, urinary folds and unbridled urination), and tower signs. Depending on which symptoms are superior, multiple system atrophy can be divided into multiple Parkinson's typ systems or multiple cerebral typ systems. Multiple cerebral typ systems account for about 30% of all cases of multiple system atrophy. Patients with multiple system atrophy with outstanding cerebral palsy generally progress more slowly than those with parkinson's symptoms. In the early stages of the disease, patients may have relatively lonely cerebral palsy.

Therefore, asking for diseases and examinations should focus on finding any signs of Parkinson's syndrome, auto neurological disorders, and the above motor neuron signs. REM sleep behavior disorders are also common, which can be very useful for indexing a synuclein substrate that is accompanied by multiple system atrophy. Hissing and stop breathing when sleeping sometimes there are. Therefore, for patients with late oncinal ataction, automated neurological and sleep probes may provide additional evidence to support the diagnosis of multiple systems when clinical symptoms are unclear. Brain MRI in patients with multiple system atrophy may show signs of hot cross cake; this sign may not be clear in the early stages of the disease but may become clear after the disease progresses.

Multiple system atrophy is a disease that progresses relatively quickly. However, late-oncical primary cerebral ataction is a slowly progressing disease, and it usually does not reduce life expectancy. Patients with late-onset primary cerebral ataction will generally not have other neurological signs such as increased tendon reflexes or Parkinson's syndrome.

Parkinson's syndrome

Some common symptoms in patients with Parkinson's syndrome

In fact, the presence of Parkinson's syndrome and automatic neurological disorders in erratic elderly patients often points to a poor pregnosing because the diagnosis is likely to be multiple system atrophy. Without Parkinson's syndrome or autoi-neurological disorders for 5 years after the onset of dyslemism, these patients are likely to have a benign clinical process with a diagnosis of late-onset primary cerebral ataction.

A neurological examination determined there was a failure. To register for examination and treatment at Share99 International Health Hub, you can contact the Hotline of Share99 Health System nationwide, or register for an online examination HERE.

Source: Kuo SH. Ataxia. Continuum 2019;25(4, Movement Disorders): 1036–1054.

See also Master Vu Duy Dung's Ministry of Information and Conditions:

  • Symptoms and causes of inager
  • Clinical examination, subclinical testing and misdiagnosed diagnosis
  • Gene failure and degenerative ata loss
  • Treatment of atath

SEE MORE:

  • Symptoms and causes of inager
  • Treatment of atath
  • Clinical examination, subclinical testing and misdiagnosed diagnosis

About: John Smith

b1ffdb54307529964874ff53a5c5de33?s=90&r=gI am the author of Share99.net. I had been working in Vinmec International General Hospital for over 10 years. I dedicate my passion on every post in this site.

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