Batten Disease

What is Batten disease?

巴顿疾病是一种非常罕见的遗传疾病，会影响大脑和神经系统。症状有时是从婴儿期开始的，有时是在童年后期开始的，显然是正常的早期发育。有时它可能从成年开始。在患有板条疾病的个体中，神经系统的功能稳步下降，引起了各种各样的神经系统问题，包括loss of vision和seizures.

The life expectancy of a child born with Batten disease can vary, depending on the form of the disease and the age of onset. Some children die in early childhood, while others may be able to live into their teens or twenties.

Worldwide, roughly 14,000 children are known to have Batten disease. In the U.S., it affects an estimated 2 to 4 out of every 100,000 children. There is currently no cure.

What causes Batten disease?

Batten disease is actually a family of related disorders also known as neuronal ceroid lipofuscinoses. It can be caused by genetic mutations in any of more than a dozen known genes, collectively referred to asCLNgenes (CLN1, CLN2, etc). Because the disease is recessive, children must have two copies of aCLNmutation — one from each parent — to be affected. Siblings of affected children have a one in four chance of also developing the disease, and a 50 percent chance of being a carrier.

HowCLN突变会导致淡淡的疾病，但人们认为它们会以不同的方式干扰细胞分解和回收废物的能力。该功能是由溶酶体执行的，该溶酶体充当细胞的“垃圾桶”，因此将其归类为溶酶体储存障碍。细胞试图通过制造更多的溶酶体来补偿，这些溶酶体变得越来越大，并最终将其含量释放到细胞中。细胞最终不知所措并死亡。神经系统中的细胞似乎特别脆弱。

What are the symptoms of Batten disease?

大多数形式的淡淡疾病会导致视力丧失，癫痫发作，发展里程碑延迟，行为和学习问题以及语言和运动技能的丧失。一些婴儿棕褐色疾病的儿童也会发展小头畸形.

视力丧失通常是第一个症状，并且可以迅速发展。父母还经常注意到由于运动协调的损失而导致大孩子的笨拙和绊脚石。最终，患有板条疾病的儿童变得盲目，无法走路，说话或吞咽，并限制在轮椅或床上。

How we care for Batten disease

Because Batten disease has many genetic causes, we recommend testing through Clinical Genetics, within theDivision of Genetics and Genomics, to identify the specific subtype and the underlying mutation. This will help us predict what future course the disease might take, and may be helpful in choosing treatments.

OurLysosomal Storage Disease Programwithin Genetics and Genomics offers coordinated, patient-centered care and access to top specialists in Neurology, Ophthalmology, Physiotherapy, and others as needed. Our team in theDepartment of Neurologycan evaluate children with Batten disease over time and may recommend treatments such as antiseizure drugs and other medications to improve quality of life.