Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.
Mov Disord Clin Pract
; 11(5): 567-570, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38454300
ABSTRACT
BACKGROUND:
Deficiencies in the thyroid hormone transporter monocarboxylate 8 (MCT8) due to pathogenic variants in the SLC16A2 gene (OMIM 300095) result in a complex phenotype with main endocrine and neurologic symptoms. This rare disorder, named Allan-Herndon-Dudley syndrome (AHDS) (OMIM 300523), is inherited in an X-linked trait. One of the prominent features of AHDS is the presence of movement disorders (MD), which are complex and carry a significant burden of the disease. CASES Patient 1 male with hypotonia since birth, developmental delay, dystonic posturing at 4 months and at 15 months, and startle reaction developed with sensory stimuli. Patient 2 male, at 2 months, shows hypotonia and developmental delay, paroxysmal episodes triggered by a stimulus with sudden blush, tonic asymmetric posture, and no epileptiform activity. At 10 months, generalized dystonic posturing. Patient 3 typical neurodevelopmental milestones until 6 months; at 24 months, dystonia, startle reaction, and upper motoneuron signs.CONCLUSIONS:
We aim to describe our patients diagnosed with AHDS, focusing on MD phenomenology and strengthening the phenotype-genotype correlations for this rare condition.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hipotonia Muscular
Limite:
Child, preschool
/
Humans
/
Infant
/
Male
País/Região como assunto:
America do sul
/
Colombia
Idioma:
En
Revista:
Mov Disord Clin Pract
/
Mov. disord. clin. pract
/
Movement disorders clinical practice
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Colômbia