Individuals with coexisting seizure disorder may require treatment with anticonvulsants. Prognosis
A 2013 review stated that life expectancy for FXS was 12 years lower than the general population and that the causes of death were similar to those found for the general population. Research
Fragile X syndrome is the most "translated" human neurodevelopmental disorder under study. Hence, research into the etiology of FXS has given rise to many attempts at drug discovery. The increased understanding of the molecular mechanisms of disease in FXS has led to the development of therapies targeting the affected pathways. Evidence from mouse models shows that mGluR5 antagonists (blockers) can rescue dendritic spine abnormalities and seizures, as well as cognitive and behavioral problems, and may show promise in the treatment of FXS. Two new drugs, AFQ-056 (mavoglurant) and dipraglurant, as well as the repurposed drug fenobam are currently undergoing human trials for the treatment of FXS. There is also early evidence for the efficacy of arbaclofen, a GABAB agonist, in improving social withdrawal in individuals with FXS and ASD. In addition, there is evidence from mouse models that minocycline, an antibiotic used for the treatment of acne, rescues abnormalities of the dendrites. An open trial in humans has shown promising results, although there is currently no evidence from controlled trials to support its use.The first complete DNA sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using SMRT sequencing.
Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome, a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the disorder has been reported in medical literature. Description
People with this disorder have symptoms that affect the heart, hands and feet. These include:

Heart
Sick sinus
Bundle branch block

Hands
Brachydactyly which resembles brachydactyly type C
Abnormal development of the middle phalanges of the fingers
Accessory ossicle on the proximal phalange of the index finger. Feet
Subtle feet anomalies such as syndactyly

Etimology
This condition was first discovered by Ruiz de la Fuente et al., when they described a 3-generation family from Spain with the symptoms mentioned above. The cardiac defects varied between family members; 3 members had intraventicular conduction defects and 1 had a sick sinus. In this family, the 2nd and 5th fingers were the most severely affected out of all the fingers. Autosomal dominant inheritance was suspected. == References ==