Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters











Database
Language
Publication year range
1.
Mov Disord Clin Pract ; 11(5): 567-570, 2024 May.
Article in English | 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.


Subject(s)
Muscle Hypotonia , Humans , Male , Muscle Hypotonia/genetics , Monocarboxylic Acid Transporters/genetics , Monocarboxylic Acid Transporters/deficiency , Muscular Atrophy/genetics , Muscular Atrophy/pathology , Infant , Movement Disorders/genetics , Mental Retardation, X-Linked/genetics , Mental Retardation, X-Linked/diagnosis , Symporters/genetics , Symporters/deficiency , Colombia , Child, Preschool , Phenotype , Developmental Disabilities/genetics
SELECTION OF CITATIONS
SEARCH DETAIL