What Is Pompe Disease?
Pompe Disease is a uncommon congenital disorder of the neuromuscular system in which there is progressive muscle impuissance . This disease can regard citizenry irrespective of their age . The symptom of Pompe Disease can be observed right from babyhood to when the touched someone becomes a to the full grown adult .
What Are The Causes Of Pompe Disease?
The ascendent cause of Pompe Disease is a deficiency of an enzyme called acid alpha - glucosidase . The absence of this enzyme causes excessive accumulation of animal starch in the muscle cells . This pull together glycogen outset to bear on the structure of the muscles and step in with its function causing substantial muscle helplessness . The area which is maximally affected and the level of severity is variable and take issue from individual to mortal . To understand the cause one want to understand the part of enzyme in the body . The enzyme present in the eubstance help in breaking down unlike substances which help normal functioning of the cellular telephone . This whole breakdown occurs in cells called lysosomes . The enzyme acid alpha - glucosidase which is the cause of Pompe Disease alleviate breakdown of animal starch . Glycogen is used in the body for lay in energy . When this enzyme is not functioning appropriately or is entirely missing , it results in development of Pompe Disease .
What Are The Symptoms Of Pompe Disease?
The symptom of Pompe Disease are highly variable and may be note right from infancy until maturity . In infants the symptoms observed may be difficulty ventilation , abnormal gait pattern , unfitness to wheel over , unfitness to deem the caput up .
As an adult the symptoms observed may be shortness of breath with action , severe muscle ache and pains , dangerous fatigue duty , daytime drowsiness , shortness of breathing time with lying down . All these symptoms discussed above are due to unreasonable accumulation of glycogen in the body due to Pompe Disease .
How Is Pompe Disease Diagnosed?
Diagnosing Pompe Disease is extremely complex and include dissimilar methods for babe and adults . We will talk about both the scenario below . The treating physician will first rule out other conditions causing symptoms before looking for this condition .
What Are Treatments For Pompe Disease?
Once a diagnosis of Pompe Disease has been confirm , the discourse meter are formulated by the Dr. . Usually , there is a squad of physician required for forge a treatment programme . Previously , treatment measure were focused chiefly on symptom ascendancy as there is no clear cut curative for Pompe Disease , but as engineering science has kick upstairs there are treatments like Enzyme Replacement Therapy uncommitted which replaces the offend enzyme . steady and diligent followup is a must as the disease progresses . Supportive care is imperative to help with breathing problem , movement , and other symptoms of Pompe Disease .
