IT'S ABOUT RARE DISEASE(S)
Rare diseases are actually simple diseases
Why?
Compared to other diseases such as Alzheimer or cancer - here many factors play a role in the course of the disease - with most rare diseases 'only' one gene is defect.
If this one gene could be replaced or repaired, the disease would be fixed at its root.
If one were also able to detect these genetic defects at an early stage, one could react at the earliest possible time.
A genetic defect that cannot yet be cured
The Alström Syndrome
How to classify this disease?
The disease is difficult to diagnose because of its rarity (one or one in a million) and the associated lack of awareness. For this reason, there is little experience with typical disease processes. Visual impairment or blindness with advancing age, hearing loss, type 2 diabetes and severe organ diseases are considered symptoms. According to the current state of knowledge, Alström cannot be cured. There is no early detection.
The disease exhibits complex, variable, and increasing symptoms with age. All patients develop photophobia and nystagmus ("eye tremors") in early childhood. The visual impairment is progressive and children usually go blind by the age of 12.
Gene mutation vs. gene defective ?
A gene mutation is a (permanent) change in the genetic makeup of just one gene. The number of genes in a person is controversial. The number ranges between 20,000 and 150,000; according to current studies, a number at the lower end of the range is more appropriate. If this mutation has harmful effects on the organism, it is also known as a genetic defect .
Rare Disease?
Rare diseases affect only a few people (hence the English orphan disease; from English orphan, orphan).
The number of rare diseases is rising steadily, depending on the definition (differences between EU and USA) it is around 8,000 (EU). 4 million people in Germany and around 30 million EU citizens are affected by a rare disease.
Alström?
The presumed prevalence is 1: 1,000,000 . There are around 1,000 known cases of Alström worldwide. The number is due to the difficult diagnosis but probably much higher. In the UK the number of known cases is 89, for Germany this is unknown.
SYMPTOMS OF ALSTRÖM
The failure of the senses and organs
Alström:
circa 1.000
Sehbehinderte:
300.000.000
(weltweit)
Alström ~1.000
Seebehinderung < 300.000.000
Alström ~ 1.000
Sehbehinderung < 300.000.000
SEHEN
-
Nystagmus ("Augenzittern")
-
Photophobie (Lichtscheu)
-
Visusminderung (Minderung der Sehstärke)
-
Erblinden
Alström:
1:1.00.000
Lotto 6 aus 45 (AUT):
1:8.000.000
Alström 1 : 1.000.000
6 aus 45 (AUT) 1 : 8.000.000
Alström 1 : 1.000.000
6 aus 45 (AT) 1 : 8.000000
DIABETES
-
Hyperinsulinismus
-
Diabetes Mellitus (Typ 2)
-
Übergewicht
Alström:
circa 18.000
BOTOX:
42.000.000
(jährlich)
Alström 18.000
Botox 42.000.000
Alström ~18.000
Botox >42.000.000
HÖREN
-
Sensorineurale Schwerhörigkeit (Beschädigung der kleinen Haarzellen in der Schnecke)
-
Chronische Mittelohrentzündung
Alström:
1:1.00.000
Lotto 6 aus 45 (AUT):
1:8.000.000
Alström 1 : 1.000.000
6 aus 45 (AUT) 1 : 8.000.000
Alström 1 : 1.000.000
6 aus 45 (AT) 1 : 8.000000
ORGANE
-
Passagere dilatative Kardiomyopathie (spezielle Form der Herzmuskelerkrankung)
-
Fettleber
-
Fibrose (Vernarbung der Organe)