Ataxia - paediatric
Gene: TUBB4A
Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported.
Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.Created: 6 Jan 2022, 5:02 a.m. | Last Modified: 6 Jan 2022, 5:02 a.m.
Panel Version: 0.10533
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Publications
gene: TUBB4A was added gene: TUBB4A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101