Figura. Antecedentes familiares con el árbol genealógico de la mutación ADCY5.
Tabla I. Pacientes y familiares con mutación ADCY5 descritos previamente en la bibliografía. |
||||
Pacientes con mutación ADCY5 |
Sujetos sintomáticos sin confirmación genética |
Número de familiares afectados |
Mutación ADCY5 |
|
Chen et al (2012) |
10 |
18 |
1 |
p.A726T |
Chen et al (2014) |
2 |
2 |
2 |
p.R418W |
Chen et al (2015) |
24 |
30 |
15 |
p.R418W (8/9) p.R418Q (3/3) p.A726T (1/6) p.L720P (1/1) p.R438P (1/1) |
Mencacci et al (2015) |
3 |
3 |
2 |
p.M1029K (1/4) |
Carapito et al (2015) |
2 |
2 |
1 |
p.R418W |
Chang et al (2016) |
6 |
10 |
6 |
c.2088+1G>A p.R418W (4/4) p.R418G (1/1) |
Dy et al (2016) |
3 |
4 |
3 |
p.R418Q (1/1) p.R418W (2/2) |
Zech et al (2017) |
3 |
3 |
2 |
p.K694_M696 (1/1) p.I460F (1/1) |
Meijer et al (2017) |
1 |
1 |
1 |
p.R727K (1/2) |
Westenberger et al (2017) |
2 |
2 |
2 |
p.R418W p.D1015E (1/1) |
Douglas et al (2017) |
4 |
5 |
1 |
p.E1025V (1/1) p.M1029R |
Carecchio et al (2017) |
6 |
39 |
1 |
p.R418W p.R418Q p.R418G (1/1) |
Tuntc et al (2017) |
5 |
1 |
p.A726T (1/1) p.R418T p.R418Q |
|
Presente artículo (2020) |
1 |
4 |
4 |
p.A376T |
Tabla II. Frecuencia de la mutación ADCY5 en los casos publicados. |
||
Casos publicados afectados |
Número de familiares publicados |
|
c.1252C>T p.R418W |
24 (33,4%) |
22 (52,3%) |
c.2176G>A p.A726T |
18 (25%) |
3 (7,1%%) |
c.1253G>A p.R418Q |
6 (8,4%) |
5 (11,9%) |
c.3086T>A p.M1029K |
4 (5,5%) |
1 (2,4%) |
c.3086T>G p.M1029R |
4 (5,5%) |
1 (2,4%) |
c.1252C>G p.R418G |
3 (4,1%) |
2 (4,8%) |
c.2088+1G>A |
2 (2,7%) |
1 (2,4%) |
c.2180G>A p.R727K |
2 (2,7%) |
1 (2,4%) |
c.1252C>T p.R418T |
1 (1,4%) |
|
c.2159T>C p.L720P |
1 (1,4%) |
1 (2,4%) |
c.1313G>C p.R438P |
1 (1,4%) |
1 (2,4%) |
c.2080_2088del p.K694_M696 |
1 (1,4%) |
1 (2,4%) |
c.3045C>A p.D1015E |
1 (1,4%) |
1 (2,4%) |
c.3074A>T p.E1025V |
1 (1,4%) |
1 (2,4%) |
c.1378A>T p.I460F |
1 (1,4%) |
1 (2,4%) |
c.1126G>A p.A376T |
1 (1,4%) |
ADCY5-associated dyskinesia in young children: a case report of a family and an updated review Introduction. Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. Aims. The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. Case report. A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige’s syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. Conclusion. The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment. Key words. Child. Chorea. Dyskinesias. Movement disorders. Myoclonus. Rare diseases. |