The patient was a sixty-year-old woman that had symptoms such as sensorineural deafness, weakness, and atrophy since she was 15 years old.
12.
In patients with single-sided sensorineural deafness, BAHA sends the sound by the skull bone from the deaf side to the inner ear of the hearing side.
13.
"' ABCD syndrome "'is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut, and sensorineural deafness.
14.
Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome ( TRMA ), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.
15.
Mutations to the a3 isoform result in the human disease infantile malignant osteopetrosis, and mutations to the a4 isoform result in distal renal tubular acidosis, in some cases with sensorineural deafness.
16.
Mutations to the V-ATPase'a4'or'B1'isoforms result in distal renal tubular acidosis, a condition that leads to metabolic acidosis, in some cases with sensorineural deafness.
17.
"' Barakat syndrome "', is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as "'HDR syndrome " '.
18.
Presence of the four symptoms ( epilepsy, ataxia, sensorineural deafness, and salt-wasting renal tubulopathy ) and detection of a mutation in the KCNJ10 gene would indicate the presence of this disorder.
19.
The V 1 domain contains tissue-specific subunit isoforms including B, C, E, and G . Mutations to the B1 isoform result in the human disease distal renal tubular acidosis and sensorineural deafness.
20.
Dipti and Childs described such a situation in which a family had five children that had Infantile PBP . In this family, three siblings showed sensorineural deafness and other symptoms of BVVL at an older age.
