Disease #00456 (ALS-1 (sclerosis, lateral, amyotrophic, type 1 (ALS-1)), OMIM:105400)

Official abbreviation ALS-1
Name sclerosis, lateral, amyotrophic, type 1 (ALS-1)
OMIM ID 105400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 4 genes DCTN1, NEFH, PRPH, SOD1
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Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00017872 - PubMed: Takahashi 2008 - M ? Japan - - 0 - - ALS-1 age onset 67y progressive muscle atrophy, weakness in all extremities, postural tremor upper extremities; 68y diffuse muscle atrophy, weakness, fasciculation, hyporeflexia all extremities., weakness neck flexion, normal intelligence was normal, no bulbar sign nor pyramidal sign, EMG diffuse active neurogenic changes DCTN1 DCTN1 1 1 Johan den Dunnen
00017873 - PubMed: Munch 2005 4-generation family, M no Germany - 58y 0 - - ALS-1 see paper DCTN1, MAPT, SOD1 DCTN1 1 2 Johan den Dunnen
00017876 - PubMed: Munch 2004 4-generation family, 2 affected brothers, 2 unaffected carriers (mother (deceased 99y), sister (76y)) M no - - - 0 - - ALS-1 see paper DCTN1 DCTN1 1 4 Johan den Dunnen
00017877 - PubMed: Munch 2004 - F ? Germany - - 0 - - ALS-1 see paper DCTN1 DCTN1 1 1 Johan den Dunnen
00017878 - PubMed: Munch 2004 patient with affected sister (not screened) F ? Germany - - 0 - - ALS-1 see paper DCTN1 DCTN1 1 1 Johan den Dunnen
00081078 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother, father not available - - - - - 0 - - ALS-1 Amyotrophic lateral sclerosis, susceptibility to (OMIM:105400) NEFH NEFH 1 1 Daniel Trujillano
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