Dilated Cardiomyopathy This is a condition weakening the heart muscles.
In dilated cardiomyopathy, it is a disease of the heart muscle itself that leads to a diminishing of the pumping function. The course of the disease is slowly progressive that in general leads to worsening of the condition, and ultimately leads to heart failure.
symptoms
The heart is enlarged as a result of the disease in the heart muscle. One, or both of the heart ventricles are enlarged and have a decreased function.
resemblance to progeria patients
Progeria patients also develop heart problems. Most of them die of a heart attack.
Progeria patients also develop heart problems. Most of them die of a heart attack.
Partial lipodystrophy
In this disorder patients have a deficiency of subcutaneous fat. The characteristics of the disorder are more easily seen with women than with men.
symptoms
Patients with partial lipodystrophy have a normal distribution of fat when they are young children, but with the onset of puberty the subcutaneous fat gradually disappears from the upper and lower parts of the limbs, the buttocks and the torso. This results in a muscular appearance with distinctive superficial veins.
Fat tissue accumulates in the face and in the neck, which results in a double chin, a thick neck, or a ‘pillowy’ appearance. Fat tissue can also accumulate in the underarms, back, and between the neck and crotch.
Patients that suffer from lipodystrophy are resistant to insulin and can develop diabetes mellitus, a metabolic disease in which carbohydrates cannot be absorbed by the body.
Also the cholesterol concentration in the body changes.
In this disorder patients have a deficiency of subcutaneous fat. The characteristics of the disorder are more easily seen with women than with men.
symptoms
Patients with partial lipodystrophy have a normal distribution of fat when they are young children, but with the onset of puberty the subcutaneous fat gradually disappears from the upper and lower parts of the limbs, the buttocks and the torso. This results in a muscular appearance with distinctive superficial veins.
Fat tissue accumulates in the face and in the neck, which results in a double chin, a thick neck, or a ‘pillowy’ appearance. Fat tissue can also accumulate in the underarms, back, and between the neck and crotch.
Patients that suffer from lipodystrophy are resistant to insulin and can develop diabetes mellitus, a metabolic disease in which carbohydrates cannot be absorbed by the body.
Also the cholesterol concentration in the body changes.
resemblance to progeria patients
A Progeria patient also has a defective production of subcutaneous fat and may develop an elevated concentration of cholesterol in the veins Progeria patients may sometimes also develop diabetes mellitus.
A Progeria patient also has a defective production of subcutaneous fat and may develop an elevated concentration of cholesterol in the veins Progeria patients may sometimes also develop diabetes mellitus.
EDMD: Muscular Dystrophy Emery-Dreifuss
muscular dystrophy is transmitted X-bound and recessive, which is why it is predominantly found in boys. Limb-girdle muscular dystrophy (LGMD) is an autosomal dominant form of Emery-Dreifuss muscular dystrophy.
symptoms
muscular dystrophy is transmitted X-bound and recessive, which is why it is predominantly found in boys. Limb-girdle muscular dystrophy (LGMD) is an autosomal dominant form of Emery-Dreifuss muscular dystrophy.
symptoms
As patients with muscular dystrophy grow older, they develop complaints in the ventricles of the heart.
Loss of muscular strength.
Patients with EDMD already in their childhood years have disfigured elbows and a concave chest. In addition they have a slowed intellectual growth.
Patients with LGMD suffer from weakness of the pelvic girdle
resemblance to Progeria patients
A Progeria patient also develops heart troubles.
Loss of muscular strength.
Patients with EDMD already in their childhood years have disfigured elbows and a concave chest. In addition they have a slowed intellectual growth.
Patients with LGMD suffer from weakness of the pelvic girdle
resemblance to Progeria patients
A Progeria patient also develops heart troubles.
CMT: Charcot-Marie-tooth
Charcot-Marie-Tooth disease, or CMT, is one of the most frequent occurring neurological disorders. The disease is inherited, and can be passed on from one generation to the next generation. The disease is usually not life-threatening. CMT occurs worldwide and in all races and ethnic groups.
symptoms
In 90% of the cases, the most occurring symptoms of the disease are seen in the early youth.
Charcot-Marie-Tooth disease, or CMT, is one of the most frequent occurring neurological disorders. The disease is inherited, and can be passed on from one generation to the next generation. The disease is usually not life-threatening. CMT occurs worldwide and in all races and ethnic groups.
symptoms
In 90% of the cases, the most occurring symptoms of the disease are seen in the early youth.
The symptoms are:
- Gradual loss of muscular strength. This mostly affects the lower parts of the limbs.
- Disfigured feet and difficulty with walking. This is because of reduced reflexes, the deformed feet , and because the muscles in the limbs weaken.
- CMT-patients have a high arch and hammer toes
- They have difficulty keeping their balance.
- Limited function in the hands.
- Muscle cramps in the lower-leg and arms may occur.
- Problems with the curvature of the spine.
- Some CMT patients experience respiratory difficulties.
- Some patients lose part of their sensory nerve functions. It is not the case that all patients experience these symptoms. That differs per person. Also the seriousness of the symptoms can vary greatly per person, even within the same family.
Charcot-Marie-Tooth disease does not influence the life-expectancy, but it can cause invalidity. There is no medicine that cures the disease, but the disease can be made more bearable by physical therapy. The proper use of the hands have to be stimulated so that activities in everyday life remain possible.
resemblance to progeria patients
Progeria patients, just as CMT patients, have trouble with joints that do not function well, which in both results in reduced mobility.
- Gradual loss of muscular strength. This mostly affects the lower parts of the limbs.
- Disfigured feet and difficulty with walking. This is because of reduced reflexes, the deformed feet , and because the muscles in the limbs weaken.
- CMT-patients have a high arch and hammer toes
- They have difficulty keeping their balance.
- Limited function in the hands.
- Muscle cramps in the lower-leg and arms may occur.
- Problems with the curvature of the spine.
- Some CMT patients experience respiratory difficulties.
- Some patients lose part of their sensory nerve functions. It is not the case that all patients experience these symptoms. That differs per person. Also the seriousness of the symptoms can vary greatly per person, even within the same family.
Charcot-Marie-Tooth disease does not influence the life-expectancy, but it can cause invalidity. There is no medicine that cures the disease, but the disease can be made more bearable by physical therapy. The proper use of the hands have to be stimulated so that activities in everyday life remain possible.
resemblance to progeria patients
Progeria patients, just as CMT patients, have trouble with joints that do not function well, which in both results in reduced mobility.
MAD Mandibuloacral dysplasia Mandibuloacral dysplasia is a rare autosomal recessive syndrome.
symptoms
- Patients with MAD have a small build.
- The lower jaw is underdeveloped as a result of which there is little room for the teeth.
- MAD patients have underdeveloped collarbones.
- They also have complaints from acro-osteolysis. This means that the tips of the fingers and toes slowly disappear.
- They have a narrow face with a pointy nose.
- Patients that suffer from MAD have stiff joints.
- The skin has a spotted pigmentation and is sometimes also dry and stiff.
- Some patients have thin, fragile hair, and premature hair loss.
- Patients also suffer lipodystrophy
symptoms
- Patients with MAD have a small build.
- The lower jaw is underdeveloped as a result of which there is little room for the teeth.
- MAD patients have underdeveloped collarbones.
- They also have complaints from acro-osteolysis. This means that the tips of the fingers and toes slowly disappear.
- They have a narrow face with a pointy nose.
- Patients that suffer from MAD have stiff joints.
- The skin has a spotted pigmentation and is sometimes also dry and stiff.
- Some patients have thin, fragile hair, and premature hair loss.
- Patients also suffer lipodystrophy
resemblance to progeria patients
MAD patients have many similarities to Progeria patients. Almost all symptoms are also found with Progeria patients. On average, MAD patients tend to live longer than Progeria patients.
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Werner Syndrome
Werner syndrome is also an ageing-syndrome. In this disorder, which is hereditary, symptoms and complaints that are normally associated with old age arise earlier than normal. The disorder can first present itself at the onset of puberty, but also earlier or later. The average life-expectancy is 20-30 years.
symptoms
A characteristic of Werner syndrome is that the skin hardens, mainly in the limbs.
Patients may be affected by cataracts, an eye disease that strongly reduces the ability to see.
They may also have complaints of hardening of subcutaneous tissue due to calcification, premature narrowing and hardening of arteries, diabetes, and a wrinkled, prematurely ageing, face.
The appearance is distinctive: short stature, thin limbs and a short and thick torso. They also have a pointy nose.
MAD patients have many similarities to Progeria patients. Almost all symptoms are also found with Progeria patients. On average, MAD patients tend to live longer than Progeria patients.
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Werner Syndrome
Werner syndrome is also an ageing-syndrome. In this disorder, which is hereditary, symptoms and complaints that are normally associated with old age arise earlier than normal. The disorder can first present itself at the onset of puberty, but also earlier or later. The average life-expectancy is 20-30 years.
symptoms
A characteristic of Werner syndrome is that the skin hardens, mainly in the limbs.
Patients may be affected by cataracts, an eye disease that strongly reduces the ability to see.
They may also have complaints of hardening of subcutaneous tissue due to calcification, premature narrowing and hardening of arteries, diabetes, and a wrinkled, prematurely ageing, face.
The appearance is distinctive: short stature, thin limbs and a short and thick torso. They also have a pointy nose.
resemblance to progeria patients
Progeria is a comparable ageing disease, although with Progeria patients, the symptoms develop directly after birth, and they die much earlier of geriatric complaints than patients with Werner Syndrome. Patients with Werner Syndrome develop the symptoms at an older age.
This website offers more information on Werner Syndrome, and offers contacts as a peer support group:
please see Werner Syndrome.
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Progeria is a comparable ageing disease, although with Progeria patients, the symptoms develop directly after birth, and they die much earlier of geriatric complaints than patients with Werner Syndrome. Patients with Werner Syndrome develop the symptoms at an older age.
This website offers more information on Werner Syndrome, and offers contacts as a peer support group:
please see Werner Syndrome.
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RD, Restrictive dermopathy: Neonatal Progeria
This is a serious, rare disorder. An RD patient dies very early, mostly in the first weeks after birth.
symptoms
- The disease is characterised by a delayed growth in the uterus.
- The patients have a very tight and stiff skin at birth, which makes movement, and even breathing difficult.
- They have distinct, superficial veins.
- Facial features: small mouth, narrow, pointy nose, and abnormal jaws (mainly the jawbone). They have sparse or absent eyelashes.
- They have thin collarbones
- Underdevelopment of the lungs.
This is a serious, rare disorder. An RD patient dies very early, mostly in the first weeks after birth.
symptoms
- The disease is characterised by a delayed growth in the uterus.
- The patients have a very tight and stiff skin at birth, which makes movement, and even breathing difficult.
- They have distinct, superficial veins.
- Facial features: small mouth, narrow, pointy nose, and abnormal jaws (mainly the jawbone). They have sparse or absent eyelashes.
- They have thin collarbones
- Underdevelopment of the lungs.
resemblance to progeria patients
- a narrow, pointy nose
- delayed growth
- distinct superficial veins
- some Progeria patients also have a tight skin
- limited development of the jaw
- disrupted development of the collarbones.
- a narrow, pointy nose
- delayed growth
- distinct superficial veins
- some Progeria patients also have a tight skin
- limited development of the jaw
- disrupted development of the collarbones.
