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 profiles. 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 treatment
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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. And also an angular profile. And prominent muscles or bones. In addition, they also develop low muscle mass. Some abnormal facial features (dysmorphism), speech abnormalities, outward curvature. And lateral curvature of the spine (kyphoscoliosis). And also the bone decrease mass leading to fragile bones (osteoporosis). Seizures are also rather common. Finally, the syndrome results from an inactivating mutation. In the spermine synthase (SMS) gene. Resulting in an inability to convert spermidine to spermine
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The sick Populations: Snyder-Robinson syndrome treatment
We can not estimate Snyder-Robinson syndrome prevalence. Because it is a rare X-linked intellectual disability disorder. Because of SRS, we identified it in patients located in the United States, South America. And Europe is likely not restricted to any ethnic population geographical locale.
Related Disorders: Snyder-Robinson syndrome treatment
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.
Snyder-Robinson syndrome Signs & Symptoms
Snyder-Robinson syndrome symptoms severity. And progression depends on the history of each patient. The affected children have a “gestalt”. This is consisting of facial dysmorphism with a prominent lower lip. An asthenic build. In addition a low muscle mass, kyphoscoliosis. And speech abnormalities. Males with SRS have low muscle tone (hypotonia) at birth. Symptoms appear early, especially the facial features. Furthermore, 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 result in numerous fractures without a causative event. We note in many males that affect seizures and severity varies.
Snyder-Robinson syndrome Causes
The main cause of Snyder-Robinson syndrome is the changing (mutations) in the SMS gene. Thus far, we knew 21 mutations but, not all are published. Since the gene resides on the X chromosome only males are affected. Therefore, if the mother of a male with SRS carries the mutation. Moreover, there is a 50% chance another son will have SRS and a daughter will carry it. The degree of new mutations appears lower as only a single case exists. In which the mother of the boy with SRS is not a carrier.
Diagnosis
Snyder-Robinson syndrome diagnostics required a clinical presentation. And confirmation through the 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 appears more than once. To absolutely ensure a proper diagnosis of SRS we need to conduct biochemical studies(SMS activity and cellular spermidine/spermine ratios)
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:
They think that the spermine production with cells within the body Spermine Supplement might treat the disorder. As SRS results from a lack of spermine. However, this approach is unsuccessful. Thus, direct treatment towards alleviating some of the symptoms of SRS. Furthermore, speech, physical, occupational therapies are very helpful. But the result varied.
Calcium supplementation to improve bone mineral density tried to counteract osteoporosis. Again, results varied. Nonetheless, because of osteoporosis. And the risk of fractures increases. We need to monitor regularly patients with SRS. And also we need to initiate calcium supplementation. Once the bone decrease mineral we observe density. More also the treatment of seizures we can attempt with various drugs. However, success with anyone drug is variable. And finally, some seizures are refractory to treatment.
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