Progeria is a condition that causes patients to prematurely appear to be aging. It is seen very early in life in children, and symptoms are usually detected within the first months after birth in affected patients. This is a very rare condition that is caused by a genetic mutation. The condition causes a variety of different problems for affected individuals including cardiovascular problems and stroke. It can also create problems such as early kidney failure or bone weaknesses that lead to issues such as hip dislocation.
At the same time, affected individuals are not impacted neurologically and typically display normal intelligence levels. Problems resulting from the condition usually lead to death in affected individuals due to either heart attack or stroke before they reach the age of 13. However, some patients with the condition have managed to survive to the age of 20.
There is no cure for progeria. Any available treatment focuses on treating the complications that typically result from the condition rather than treating the condition itself. For example, affected individuals can be treated for cardiovascular disease through procedures including coronary bypass surgery or prescribing regular intake of low-dose aspirin. Treatment for progeria often also includes treatment for arthritis and respiratory weaknesses.
Although there is currently no treatment, researchers have attempted to treat the condition with growth hormone treatment. Progeria is an extremely rare condition and there are currently only 140 known cases reported throughout medical history. There are also no known risk factors that increase an individual’s or infant’s chance of experiencing the condition. In the vast majority of cases, the condition results from a random gene mutation that is not brought about by any familial genetic factor, lifestyle, or environmental condition.
An infant’s pediatrician will typically become aware of the condition very early on who the child fails to gain weight properly. However, there are a variety of additional symptoms for the condition other than slow development. The following are seven common symptoms that patients with progeria typically exhibit. These symptoms usually become increasingly apparent over time as the child ages.
1. Slowed Growth
Affected individuals will not grow normally in terms of height and weight. They will quickly fall behind the growth rate of normal children not long after birth. One of the earliest symptoms of the condition is a “failure to thrive” or an inability to put on weight normally while aging through infancy. Although they will be below average when it comes to height and weight, the reproductive systems of affected patients do develop normally and in some cases patients with the condition have survived long enough to reproduce.
Affected patients will display a slowed growth rate and also tend to be weak and frail throughout their entire lives. Their bones will typically be fragile and they will remain underweight and have trouble accumulating muscle mass. Patients often complain of arthritis like pain and discomfort including stiff joints and skeletal abnormalities.
[nextpage title=“Next” ]2. High Pitch Voice
When patients who are affected by the condition begin to speak, they will usually have a distinctively high pitched voice. The voice of affected patients will not change or develop typically with the onset of puberty and tends to remain abnormally high pitched throughout the patient’s entire life.
[nextpage title=“Next” ]3. Narrowed Face, Thin Lips, Smaller Jaw Line
Patients with this condition will also exhibit distinctive facial features. Their face tends to be more narrow than the face of other children at the same age. Also, their lips tend to be abnormally thin and can become increasingly thin with age. Another distinctive facial feature of patients who are affected by this condition is that their jaw line remains abnormally small and does not seem in proportion with the size of the head.
In addition to a smaller jaw line, patients affected by the condition also often don’t develop teeth normally. Teeth development is often delayed or doesn’t proceed normally in progeria patients.
[nextpage title=“Next” ]4. Hair Loss
Patients with this condition will progressively los their hair as they age. Hair loss is seen not only on the head, but all over the rest of the body as well. While affected patients may show some hair growth at birth, they tend to gradually lose more and more hair as they age and eventually reach a point where they display full-body alopecia or hair loss. Hair loss is also typically seen on the eyebrows and eyelashes.
[nextpage title=“Next” ]5. Head Disproportionately Large For The Face
Another distinctive feature when it comes to the face and head of affected patient is that the head of affected patients appears large and disproportionate with the rest of the face. While the jaw, nose, and lower parts of the face remain small, the head often seems swollen. This appearance is often enhanced by the loss of the patient’s hair. Often, the ears of the affected patient also appear small in relation to the size of the patient’s forehead and head.
The head of affected patients will often not only appear disproportionate with the rest of the face, but also disproportionate with the entire body as well.
[nextpage title=“Next” ]6. Spotty And Wrinkly Skin
Patients who are affected by the condition will typically begin to develop wrinkles and other blemishes and abnormalities looking like age spots in the skin at a very early age. Wrinkly skin will typically be seen all over the body. Another distinctive appearance of patients affected with this condition is skin that appears to be thinning. The skin’s appearance will typically be similar to the appearance of an elderly individual’s skin, but this will occur at a very young age. Another characteristic of the skin of affected patients is a hardening in the skin around the patient’s trunk and on the extremities.
[nextpage title=“Next” ]7. Visible Veins
Visible veins is another symptoms patients display that is similar to the aging affects seen on a normal, healthy elderly individual. Veins can become prominent all over the body, but they may become especially noticeable on the patient’s forehead or all around the patient’s head.
