Autosomal Dominant Familial Dyskinesia and Facial Myokymia

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

BACKGROUND Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder that is exacerbated by anxiety. In a 5-generation family of German ancestry, we previously mapped FDFM to chromosome band 3p21-3q21. The 72.5-Mb linkage region was too large for traditional positional mutation identification. OBJECTIVE To identify the gene responsible for FDFM by exome resequencing of...

Facial myokymia.

The facial musculature may be the site of a great variety of involuntary movements, often of doubtful nature and obscure causation. One form was sharply delineated both by clinical description and probable pathogenesis by Andermann, Cosgrove, LloydSmith, Gloor, and McNaughton (1961). These authors drew attention to the condition of facial myokymia of which they described four cases of their own...

Familial hypothyroidism with autosomal dominant inheritance.

Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identific...

Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.

OBJECTIVE A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. CASE REPORT The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of p...

Experimental facial myokymia in cat