MULTIPLE SULFATASE DEFICIEN

MULTIPLE SULFATASE DEFICIENCY

One of the diseases affecting the brain, skin, and bones is a lysosomal storage disorder called multiple sulfatase deficiency. There are three types of multiple sulfatase deficiency, namely: neonatal, late-infantile, and juvenile. The signs and symptoms of this condition vary greatly among the three types. The most severe form, the neonatal type, has symptoms that develop promptly after birth. The most frequent type, however, is the late-infantile type. It has a clinical presentation of progressive loss of mental abilities and movement after a span of normal development.  The rarest among the three types is the juvenile type. It is characterized by a slower regression of psychomotor development in mid to late childhood. In all three types, life expectancy is greatly reduced. SUMF1 gene mutations are responsible for multiple sulfatase deficiency. The disease is genetically inherited and follows an autosomal recessive pattern. Currently, there is still no cure for multiple sulfatase deficiency. Treatment is supportive and makes use of physical therapy.

SYMPTOMS

The following signs and symptoms are usually present in 80-99% of individuals with this condition:

  • Abnormality of peripheral nerve conduction
  • Developmental regression
  • Global developmental delay
  • Hepatomegaly
  • Ichthyosis

DIAGNOSIS

Rare diseases, as the name implies, are uncommon; therefore, making a conclusive diagnosis for these diseases may prove to be challenging for most healthcare professionals. To make a diagnosis, healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and diagnostic test results so that the diagnosis will be conclusive. The above-stated signs and symptoms can give basic information for this kind of disease. However, a diagnosis is only made by a physician. If you have pertaining inquiries with regards to or getting a diagnosis, contact a healthcare professional.

TREATMENT

Treatment options for multiple sulfatase deficiency is symptomatic and supportive. That is, healthcare professionals treat the complications and symptoms arising from the disease, not the disease itself. Referral to specialists for various conditions arising from this disease is essential to improve the life of the patient e.g. referral to an orthopedist for orthopedic symptoms and referral to a dermatologist for dermatologic symptoms.

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