EKMAN-LOBSTEIN DISEASE

Ekman-Lobstein syndrome is a condition that causes weak, easily broken bones. It’s present from birth and most commonly affects youngsters with a family history of the disease. Osteogenesis imperfecta (OI) is a term used to describe the condition, which means “imperfectly developed bone.”

The severity of ekman-lobstein disease varies. The majority of instances are minor, with only a few bone fractures. Severe types of the condition, on the other hand, might result in hearing loss, heart failure, spinal cord difficulties, and irreversible abnormalities. When OI occurs in babies before or shortly after birth, it can be life-threatening.

TYPES

  • Type I. It is the most common and least serious type.
  • Type II. The most serious type of OI is often referred to as the lethal version.
  • Type III.The bones shatter readily, and height is much shorter than usual.
  • Type IV. OI Type IV is in between Type I and Type III in terms of intensity.

SYMPTOMS

The signs and symptoms of Ekman-Lobstein syndrome vary depending on the type of disease. Everyone with the condition has frail bones, however the degree of fragility varies. Other symptoms may include one or more of the following:

  • Weak teeth
  • Bone deformities
  • Loose joints
  • Bowed arms and legs
  • Multiple fractured bones
  • Hearing loss
  • Kyphosis
  • Heart defect
  • Scoliosis
  • Respiratory disorders

DIAGNOSIS

In diagnosing Ekman-Lobstein disease, your doctor may do a physical examination, assessment of medical history and symptoms. In addition to this, your doctor may order the following tests: 

  • X-ray. It can help your doctor to see current and previous damaged bones. An X-ray can also make it easier to spot bone abnormalities.
  • Lab Testing. It may be utilized to examine your child’s collagen structure.
  • Skin Punch Biopsy. It may be needed in some instances. The doctor will take a small sample of your tissue using a pointed, hollow tube. 

It is possible to use genetic testing to track down the origins of any faulty genes.

TREATMENT

Ekman-Lobstein disease has no known cure. However, there are supportive therapies that can assist your child’s quality of life and lower their chance of fractured bones. The following are some of the Ekman-Lobstein disease treatments:

  • Occupational and physical therapy
  • Pain relief medication
  • Bisphosphonate medications
  • Surgery
  • Bone-building low impact exercise
  • Mental health counceling
  • Reconstructive surgery

The success of your treatment will be determined by your medical condition. So, speak with your doctor about the best therapy options for you.

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