Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuromuscular deficits described in early childhood as motor awkwardness or slow movements are still clinically present in school-aged boys with XXY and XYY sex chromosome aneuploidy. A control group of 14 boys (6 to 19 years of age) and 14 XXY and four XYY boys (6 to 15 years of age), identified by newborn screening, were blindly evaluated by a physical therapist. The Bruininks-Oseretsky Test of Motor Proficiency (BOTMP) was administered and a clinical rating of neurologic status and sensory-motor integration was assigned. On the motor proficiency test, the XXY boys had significantly lower mean scores for upper limb coordination, speed and dexterity, and on gross motor and battery composites. The neuromuscular status of the aneuploid boys was deficient, with hypotonia, apraxia, primitive reflex retention, and problems with bilateral coordination and visual-perceptual-motor integration. This mild to moderate dysfunctional sensory-motor integration, as well as previously described auditory-processing deficits and dyslexia, contributed to school performance below that expected from their cognitive potential.
 ...
PMID:Gross and fine motor development in 47,XXY and 47,XYY males. 361 95

In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. BCL11A is situated within the dyslexia susceptibility candidate region 3 (DYX3) candidate region on chromosome 2. The present case is the first to involve a single gene within the microdeletion region and a phenotype restricted to a subset of the traits observed in other cases with more extensive deletions.
 ...
PMID:De novo microdeletion of BCL11A is associated with severe speech sound disorder. 2481 May 80