Zusammenfassung der Ressource
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- are those that have a low prevalence in the population. To be considered rare, each specific disease can
only affect a limited number of people
- Amyotrophic Lateral Sclerosis
- it destroys the motor neurons that are an important link in the nervous
system,
- Go from being a healthy and strong person, with developed muscles, to
lose your muscle mass and remain in a compulsory wheelchair
- which through the brain control the voluntary movements of the body and provide the
information for the nutrition of the muscles
- Acrogeria Gottron
- It mainly affects women, characterized by skin atrophy and
loss of subcutaneous fat from the beginning to the birth or
soon after.
- The extremities, backs of the hands and feet are particularly
affected, but changes may also appear on the face and trunk.
- The skin is thin, dry and transparent. The nails are dystrophic, fine hair without
baldness, it has no systemic repercussions and the physical and mental
development is normal.
- Autosomal recessive mutation
dRTA
- It is an inherited form of distal renal tubular acidosis (RTA) characterized
by hyperkalemic hypokalemic metabolic acidosis.
- This gene is a unit that controls listening at an early age and in some cases at a late age, if it is
affected it leaves the affected person with little or no audio.
- It is not demonstrated in any way, it only appears and
harm your life
- Angioneurotic edema
- It is characterized by rapid swelling (edema) of the skin, mucosa, and submucosal tissues. Aside from
its common allergy-induced form, it has been reported as a side effect of some medications,
especially ACE inhibitors.
- Mucus practically all the time, allergy and watery eyes and on many occasions swollen. The
allergy will probably cause pain to those who suffer it, in addition to the fact that the eyes
become blurred with the eyes made.
- Allergy is the most painful, but to cloud my eyesight is the most
uncomfortable, not seeing in the morning is horrible
- Hypomyelinating
leukodystrophy
- A rare hypomyelinating leukodystrophy disorder characterized by the association of dental
abnormalities,
- hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with delayed or
regression of neurological development and / or progressive cerebellar symptoms.
- Signs frequently include intentional tremor, dysmetry, lack of smooth
follow-up and gaze-evoked nystagmus, and, more variably, gait ataxia and
vertical gaze limitation.