What is hypophosphatasia?

hypophosphatasia is a rare inherited disorder that affects the way bones and teeth are formed. The genetic mutation prevents the proper mineralization of the hard tissues in the body, which means that they are left fragile and malformed. The severity of the disorder may vary significantly and some people have only minor problems related to bones in adulthood. Serious cases may result in potentially fatal complications in early childhood and childhood. There is no clear remedy for disorder, but a combination of surgery, physical therapy and drugs can help many people with hypophosphazia to handle their conditions well and enjoy an active lifestyle.

bones and teeth gain their hardness with a process called mineralization, which begins in the womb and continues throughout the life of man. The enzyme called alkaline phosphatase normally controls the process of mineralization, allowing calcium, phosphates and other hard substances to be used to create bones. People who do not create enough fUnited enzymes of alkaline phosphatase to facilitate normal mineralization. Milder forms of the condition have an autosomal dominant formula of inheritance, which requires only one parent to carry a defective copy of the gene that encodes the production of alkaline phosphatase. Severe hypophosphatasia usually occurs when both parents are carriers of a mutated gene.

hypophosphatasia, which is present at birth, is usually characterized by serious problems with breathing and feeding and apparent skeletal defects. The chest can be captured and the arms and legs are often much shorter than usual. In less severe cases, the symptoms of hypophosphatasia may not occur only later in childhood. A child may lose his baby teeth at an early age, bowing legs and wrists and frequent breathing problems due to the fragile chest bones. Symptoms that do not develop not maturity usually milder and may include higher sensitivity to fractures of legs and legs,Early loss of adult and arthritis tooths in multiple body joints.

The treatment of hypophosphatasia depends on the severity of symptoms. Infants who were born with life -threatening complications must usually be placed on fans and other support machines from the hope of preventing lung and heart failure. Elderly patients often need to take medicines that help their bones absorb more calcium and other vital minerals. Surgery can be considered for reinforcement of bones with metal bars and screws. In addition, seating physical therapy can help adult patients build muscle strength and reduce the chances of suffering of bone fractures.