SPIELMEYER-VOGT-BATTEN SYNDROME - Overview, Facts, Types

SPIELMEYER-VOGT-BATTEN SYNDROME

Spielmeyer-Vogt-Batten Syndrome, also known as Batten Disease, is a prevalent term for a group of uncommon and deadly nervous system diseases known as Neuronal Ceroid Lipofuscinoses (NLCs). This is a hereditary genetic condition that seems to impair the operation of lysosomes, which are tiny structures inside cells.

Lysosomes are the cells that constantly break down wastes, proteins, and naturally occurring fatty substances called lipids into smaller components that may be recycled. In this condition, mutated genes do not generate enough quantities of proteins required for lysosomal function.

According to data, Batten Disease affects 1 in 12,500 children in specific communities.

SYMPTOMS

Symptoms of the Spielmeyer-Vogt-Batten syndrome appear at various ages, and these often develop rapidly. These include:

  • Seizures
  • Blurry Vision
  • Cognitive Problem
  • Stuttering
  • Echolalia
  • Spine Curvature
  • Constipation 
  • Teeth Grinding
  • Body fat and muscle mass is decreasing

DIAGNOSIS

To diagnose Batten Disease, your doctor may perform the following:

  • DNA Analysis. This is used to verify the existence of a mutant gene as one cause of batten disease.
  • CT Scan or MRI. These are both imaging tests that may assist in identifying deteriorating or atrophic areas of the brain.
  • Measurement of Enzyme Activity. This is used to help in the confirmation of particular diagnoses caused by distinct mutations.
  • Urine and Blood Test. This is used to examine specific anomalies in blood and urine that may suggest Batten Disease.
  • Skin or Tissue Testing. This is done by removing a tiny sample of tissue and examining it under an electron microscope.
  • Electroencephalogram (EEG). This is done to monitor the electrical currents in the brain and check for seizures.
  • Electrical studies of the eyes. This test is for identifying a variety of ocular disorders that are common among children.

TREATMENT

According to physicians, there is no cure for this condition. However, a medicine called Cerliponase Alfa (Brineura) may help manage the symptoms. Aside from medication, couples of therapy can also help, including the following: 

Psychotherapy or talk therapy. Is also a treatment in this condition. This is to examine and modify problematic thinking for those patients with Batten Syndrome.

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