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All about Snyder-Robinson syndrome

Snyder-Robinson syndrome (SRS) is a rare X-linked intellectual disability (XLID) disorder that affected males . Most of them have a slender build with long limbs, angular profile, and prominent muscles or bones. They also develop low muscle mass, some abnormal facial features (dysmorphism), speech abnormalities, outward curvature, and lateral curvature of the spine (kyphoscoliosis). . Read till the end to know more about Snyder-Robinson syndrome and its treatments.

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What is Snyder-Robinson syndrome? What are the sign and the synonyms? What are the causes? Which treatment to use to cure the evil? Which natural treatment to used.?Grandmother recipe to heal the evil.

Snyder-Robinson syndrome :Definition,cause and treatment. Click on the picture to discover

Snyder-Robinson syndrome (SRS) is a rare X-linked intellectual disability (XLID) disorder that affected males. Most of them have a slender build with long limbs, angular profile, and prominent muscles or bones. They also develop low muscle mass, some abnormal facial features (dysmorphism), speech abnormalities, outward curvature, and lateral curvature of the spine (kyphoscoliosis). And also decreased bone mass leading to fragile bones (osteoporosis). Seizures are also rather common. The syndrome results from an inactivating mutation in the spermine synthase (SMS) gene resulting in an inability to convert spermidine to spermine

 

Affected Populations

We can not estimate Snyder-Robinson syndrome prevalence because it is a rare X-linked intellectual disability disorder. As SRS has been identified in patients located in the United States, South America, and Europe, it is likely not restricted to any ethnic population geographical locale.

 

Related Disorders

A lot of  XLID disorders present with hypotonia very early in life. However, SRS is the only human disorder related to an abnormality in polyamine biosynthesis.

 

 

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Snyder-Robinson syndrome: Manifestation

Snyder-Robinson syndrome Signs & Symptoms

Snyder-Robinson syndrome symptoms severity and progression depend on the history of each patient. Affected children have a “gestalt” consisting of facial dysmorphism with a prominent lower lip, an asthenic build, low muscle mass, kyphoscoliosis, and speech abnormalities. Males with SRS have low muscle tone (hypotonia) at birth. Symptoms appear early, especially the facial features. Developmental milestones are also not met early in life. The developmental delay progresses such that many boys with SRS have some motor disability. Osteoporosis develops which can result in numerous fractures without a causative event. Seizures have been noted in many affected males and severity varies.

 

Snyder-Robinson syndrome Causes

 The main cause of Snyder-Robinson syndrome is the changing (mutations) in the SMS gene. Thus far, 21 mutations are known although not all have been published. Since the gene resides on the X chromosome only males are affected. If the mother of a male with SRS carries the mutation, there is a 50% chance another son will have SRS and a daughter will be a carrier. The degree of new mutations appears to be low as only a single case exists in which the mother of the boy with SRS was not a carrier.

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Snyder-Robinson syndrome natural treatment

Diagnosis

Snyder-Robinson syndrome diagnostics required a  clinical presentation and confirmation by sequencing of the SMS gene. However, since SRS is a rare XLID condition, more likely the diagnosis is made after whole-exome sequencing (WES) identifies a mutation in the SMS gene. Additionally, since at present only one mutation in SMS has appeared more than once, biochemical studies (SMS activity and cellular spermidine/spermine ratios) should be conducted to absolutely ensure a proper diagnosis of SRS.

 

Standard Therapies

Treatment

Currently, there is no treatment that effectively treats Snyder-Robinson syndrome. All the same, doctors used some drugs and antibiotics to manage the symptoms.

Among them we have:

Spermine supplementation

Spermine supplementation might treat the disorder as SRS results from a lack of spermine being produced by cells within the body, it was thought, However, this approach has proved to be unsuccessful. Thus, treatment is directed towards alleviating some of the symptoms of SRS. Speech, physical, occupational therapies have been helpful but results have varied.

Calcium supplementation

Calcium supplementation to improve bone mineral density has been tried to counteract osteoporosis. Again, results have varied. Nonetheless, because of the osteoporosis and an increased risk for fractures, patients with SRS should be monitored regularly and calcium supplementation should be initiated once decreased bone mineral density is observed. Treatment of seizures can be attempted with various drugs. However, success with anyone drug has been variable and some seizures have been refractory to treatment.

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What is Snyder-Robinson syndrome?What is the sign and the synonyms?What is the causes ? Which treatment to use to cure the evil? Which natural treatment to used.?Grand mother recipe to heal the evil.

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