All about Snyder-Robinson syndrome

Snyder-Robinson syndrome (SRS) is a rare X-linked intellectual disability (XLID) disorder that affects males. Most of them have a slender build with long limbs, an 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 a decrease in bone mass leading to weakening of the bones (osteoporosis). Seizures are also quite common. The syndrome results from an inactivating mutation in the spermine synthase (SMS) gene resulting in an inability to convert spermidine to spermine

People Affected

We cannot estimate the prevalence of Snyder-Robinson syndrome 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 limited to one ethnic population geographic location.

Associated disorders

Many XLID disorders exhibit hypotonia very early in life. However, SRS is the only human disorder linked to an abnormality in polyamine biosynthesis.

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Signs and Symptoms of Snyder-Robinson Syndrome

The severity and progression of Snyder-Robinson syndrome symptoms depend on each patient's family history. Affected children have a "gestalt" consisting of facial dysmorphism with a prominent lower lip, an asthenic build, low muscle mass, kyphoscoliosis and speech abnormalities. Men with SRS have low muscle tone (hypotonia) at birth. Symptoms appear early, especially in facial features. Developmental milestones are also not reached early in life. Developmental delay progresses such that many boys with SRS have motor disabilities. Osteoporosis develops which can lead to many fractures without a causative event. Seizures have been observed in many affected males and vary in severity.

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The main cause of Snyder-Robinson

syndrome is the change (mutations) of the SMS gene. So far, 21 mutations are known although not all of them have been published. Since the gene resides on the X chromosome, only males are affected. If the mother of a man with SRS carries the mutation, there is a 50% chance that another son will have SRS and a daughter will be a carrier. The degree of new mutations appears to be low as there is only one case in which the mother of the boy with SRS was not a carrier

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Diagnostic

Diagnosis of Snyder-Robinson syndrome required clinical presentation and confirmation by SMS gene sequencing. However, since SRS is a rare XLID disease, the diagnosis is more likely to be made after whole exome sequencing (WES) has identified a mutation in the SMS gene. Moreover, since at present only one SMS mutation has appeared more than once, biochemical studies (SMS activity and spermidine/cellular spermine ratios) must be carried out to absolutely guarantee a correct diagnosis of the SRS.

Standard therapies Treatment

Currently, no treatment effectively treats Snyder-Robinson syndrome. Nevertheless, doctors used medications and antibiotics to manage the symptoms. Among them, we have: Spermine supplementation Spermine supplementation could treat the disorder because SRS results from a lack of spermine produced by cells in the body, it was thought. However, this approach proved unsuccessful. Thus, treatment is aimed at relieving some of the symptoms of SRS. Speech therapy, physical therapy, and occupational therapy have been helpful, but the results have varied. Calcium supplementation to improve bone mineral density has been tried to counter osteoporosis. Again, results varied. Nevertheless, due to osteoporosis and an increased risk of fractures, patients with SRS should be monitored regularly and calcium supplementation initiated as soon as a decrease in bone mineral density is observed. Treatment of seizures can be attempted with various medications. However, success with any medication has been variable and some attacks have been refractory to treatment. If you are looking for a very effective natural treatment to permanently cure Snyder-Robinson Syndrome please click on the phrase To get in touch with one of our specialists,

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