Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Genes
What is Amyotrophic Lateral Sclerosis - Genes?
Amyotrophic Lateral Sclerosis - Genes is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
ALS/MND 21q11 SOD1 (Siddique et al., 1991, Orrell et al., 1997)
ALS - Juvenile AD 9q34 (Chance et al., 1998)
ALS - Juvenile AR 2q33-2q35 (Hentati et al., (1994)
ALS - Adult AR 21q22, 15q15 -15q21 (Hentati et al., 1998)
ALS - Adult AD 2p13 (Dynactin) (Puls et al., 2003).
ALS - Adult AD 18q21 (Hand et al., 2002)
ALS - Adult AD 16q12 (Abalkhail et al., 2003)
ALS - Adult AD 20q13 (Nishimura et al., 2004)
ALS - Adult FTD 9p13-21 (Vance et al., 2006)
ALS - Adult 14q11 ANG (Greenway et al., 2006)
ALS - Adult/juvenile - X-linked Xp UBQLN2 (Deng et al., 2011)
ALS-FTD - Adult 9p21 C9ORF72 DeJesus-Hernandez et al., 2011, Renton et al., 2011)
ALS - Adult 16p11 FUS Tateishi et al., (2010)
ALS/Juvenile 15q13 SPATACSIN
ALS - Inclusion body dementia 1p36 TARDBP Kabashi et al., (2008).
ALS - both AR and AD 10p15 OPTN Maruyama et al., (2010)
ALS - Adult 9p13 VCP Johnson et al., (2010)
ALS - juvenile 9p13 SIGMAR1 Al-Saif et al., (2011)
ALS - adult 12q12 PRPH Leung et al., (2004)
ALS - adult 12q22 DAO Mitchell et al., (2010)
ALS - adult 2q33 ERBB4 Takahashi et al., (2013)
ALS - adult 22q11 CHCHD10 (Muller et al., 2014)
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Genes?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Amyotrophic Lateral Sclerosis - Genes?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Genes?
The initial testing for Amyotrophic Lateral Sclerosis - Genes can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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