Signs and Symptoms
Symptoms of Perrault syndrome include:
- Hearing loss at birth or early childhood
- Ovarian dysfunction
- Delayed growth
- Neurological symptoms
Individuals with Perrault syndrome may suffer from intellectual disability, balance and coordination problems (ataxia), and numbness in their limbs. This condition, however, does not affect everyone neurologically.
Causes
Changes (mutations) in six genes lead to Perrault syndrome: CLPP, ERAL1, HARS2, HSD17B4, LARS2, or TWNK. About 40% of patients have mutations in one of these genes. The cause is still unknown in the other 60% of patients
The Perrault syndrome is an autosomal recessive genetic disorder. In an autosomal recessive genetic disorder, an individual inherits a non-working gene from each parent.
Affected Populations
A total of 100 cases of Perrault syndrome have been reported, making it a very rare disorder (<1 in 1 million).
How can ASP Health help you?
As healthcare costs in America continue to rise, many people are struggling to pay for all the care they need. ASP Health helps these people by providing a variety of healthcare services and products at affordable rates.
You must have heard of Patient assistance, prescription, or financial assistance programs. Non-profit government agencies and pharmaceutical companies manage these programs. You can register by giving the required information, which varies according to different programs. These programs assist by providing medication at an affordable rate if you qualify.
ASP Health offers patient assistance and co-pay assistance where medicines will be provided at low or no cost. Patients can find out about programs that can help cover the cost of their prescription medications with the aid of ASP Health.
We know it is challenging to handle present medication costs, that’s why we provide our support to every eligible US patient. We will take care of the documentation or any query if you have it.
Give ASP Health a call at 405-283-3244 or visit our website to apply through an online portal.