SPIELMEYER-VOGT DISEASE

Spielmeyer-Vogt disease is a term used to describe a group of deadly genetic diseases. It is a metabolic disease that is passed down through the generations. This disease interferes with the cells’ capacity to break down and eliminate waste. Because of this, proteins, carbohydrates, and lipids cannot be eliminated by the body. Thus, they accumulate.

TYPES

There are 13 different forms of the Spielmeyer-Vogt disease, according to researchers and healthcare professionals. They identify the types depending on the age at which symptoms appear and the gene that has changed. Moreover, this disease’s signs and symptoms may appear in infancy, late infancy, childhood, or the early years of teenagers.

SYMPTOMS

As the illness progresses, the impact may occur on the vision, motor abilities, speech, cognition, and language. Although, vision problems begin before children enter school, and by their early adolescent years, the majority of patients are unable to see. With poor balance and bent-knee walking, motor abilities deteriorate and reflexes become more rigid.

Moreover, many people acquire epilepsy, as well as neuropsychiatric symptoms, including obsessive behavior and attention problems. For instance, nightmares, sleep disorders, fear, anxiety, and aggression can be experienced by the patient with Spielmeyer-Vogt disease. 

DIAGNOSIS

Your doctor will evaluate your kid to identify the disease. They’ll also check about your symptoms and medical background. Also, the following tests may be done by your doctor:

  • DNA test. The doctor will look for mutations in specific genes in the DNA. A DNA test is the only method to identify Spielmeyer-Vogt disease.
  • Biopsy. In this test, large collections of lipofuscins are looked for by your doctor. Lipofuscins are fat and protein deposits that form in the skin and other tissues and are yellowish-brown in color.
  • Eye exam. This exam shows how the black lining of your eyes reacts to bright objects. 

The retina detects light and transmits data to your brain.

TREATMENT

The therapy for Spielmeyer-Vogt disease focuses on the particular symptoms that each person experiences. Treatment includes the collaboration of a group of experts. Moreover, physical therapists, Pediatricians, ophthalmologists, psychiatrists, neurologists, and/or other health care specialists may be required to arrange an afflicted child’s therapy in a systematic treatment.

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