Rare STrange Diseases

There are those rare diseases that affect a limited number of individuals with regard to the general population, less than one in 2,000. However, there are even rarer diseases are even less common, affecting one in 100,000 people. It is estimated that today there are between 5,000 and 8,000 different rare diseases, affecting between 6% and 8% of the total population. I selected nine of them

Moebius Syndrome
Moebius Syndrome

Fragile X Syndrome


Fragile X syndrome is a rare genetic disorder caused by an inherited defect on the X chromosome. It is the most common known cause of inherited mental retardation and the second most occurring after Down syndrome . It is estimated that the frequency in Spain, for example, is 1 for every 4,000 males in the general population, a carrier for 800 and a carrier for every 5,000 live births. Clinically presented with variable degrees of mental retardation, usually mild with learning difficulties, inattention, hyperactivity, anxiety and mood swings or autistic behaviors.

Moebius Syndrome


Moebius syndrome is a rare disease development. Two major cranial nerves, 6 and 7, are not fully developed in these patients. These nerves control both flickering and lateral movement of the eyes, and the many expressions of the face, causing facial paralysis and lack of movement in the eyes. Lack of facial expression can be accompanied by drooling, slurred speech and pronunciation problems.

Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes progressive deterioration in the motor neurons. The prevalence of the disease is 5 to 9 per 100,000 individuals. The age of onset of the disease varies widely, but the peak incidence is between 40 and 60 years. In approximately two-thirds of patients with ALS is weakness begins and asymmetric limb muscle deterioration. The disease is relentlessly progressive with disabilities and disability on the rise, often leading to death from respiratory failure within 3-5 years or so.

Schönlein-Henoch
Schönlein-Henoch

Schönlein-Henoch

Schönlein Purpura (HSP) is a disease characterized by inflammation of the capillaries, IE small blood vessels. Usually affects the capillaries of the skin, intestine and kidneys. Blood can escape from blood vessels inflamed skin, causing a rash of dark red or purple called purple. It may be the same in the intestine or kidneys, so blood can be eliminated in the feces or urine (hematuria).


Hutchinson-Gilford Progeria
Hutchinson-Gilford Progeria

Hutchinson-Gilford Progeria


The Progeria Hutchinson-Gilford syndrome is an extremely rare premature aging characterized by postnatal home. The main clinical and radiological features include alopecia, thin skin, absence of subcutaneous fat, joint stiffness and osteolysis. Intelligence is not affected. Premature death is caused by arteriosclerosis or cerebrovascular disease.


Marfan Syndrome


Marfan syndrome is a rare inherited disorder of connective tissue that primarily affects the skeleton, lungs, eyes, heart and blood vessels. Clinically it is characterized by above-average height, wingspan that exceeds the height and bone malformations including arachnodactyly (long, thin fingers disproportionately), pectus carinatum (chest out) or pectus excavatum (sternum shifted inward). It is accompanied by hyperextensible joints, knees and legs backward curved, flat feet, kyphoscoliosis (combination of kyphosis, abnormal curvature in the front to back of the spine and scoliosis, abnormal sideways curvature) and little subcutaneous fat. May be accompanied by acute myopia and usually affects the arteries and heart.

Congenital Insensitivity to Pain


Congenital insensitivity to pain (CIP) is a genetic disorder that affects the autonomic nervous system, which is the one that controls blood pressure, heart rate, sweating, sensory nervous system and the ability to feel pain and temperature. Patients who suffer from abnormally interpret painful stimuli. As a result, risk of injury (trauma, fractures, dislocations, burns ...) and die younger. They must be under supervision at an early age to avoid unintentionally self-injury, for example: biting his tongue.


Syndrome Tourette


The syndrome of Gilles de la Tourette , also called "tics disease", is a rare disease of the nervous system. It is characterized by rapid movement consisting tics, repetitive and involuntary muscles of a group of functionally related skeletal, lacking purpose and motor act, or in a production involuntary noises (grunts, aspiration of air through the nose, cough) and words .

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