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Poor hand-eye coordination

MedGen UID:
375756
Concept ID:
C1845864
Finding
HPO: HP:0007057

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPoor hand-eye coordination

Conditions with this feature

Creatine transporter deficiency
MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.

Professional guidelines

PubMed

Singh V, Agrawal S
J Pediatr Ophthalmol Strabismus 2013 Nov-Dec;50(6):348-54. Epub 2013 Oct 8 doi: 10.3928/01913913-20131001-01. PMID: 24102644

Recent clinical studies

Etiology

Leblanc F, Senagore AJ, Ellis CN, Champagne BJ, Augestad KM, Neary PC, Delaney CP; Colorectal Surgery Training Group
J Surg Educ 2010 Jul-Aug;67(4):200-4. doi: 10.1016/j.jsurg.2010.06.004. PMID: 20816353

Therapy

Rothman NL, Lourie RJ, Gaughan J; Lead Awareness: North Philly Style Grant Team
Am J Public Health 2002 May;92(5):739-41. doi: 10.2105/ajph.92.5.739. PMID: 11988438Free PMC Article

Prognosis

Leblanc F, Senagore AJ, Ellis CN, Champagne BJ, Augestad KM, Neary PC, Delaney CP; Colorectal Surgery Training Group
J Surg Educ 2010 Jul-Aug;67(4):200-4. doi: 10.1016/j.jsurg.2010.06.004. PMID: 20816353
Binenbaum G, Volpe NJ
Ophthalmology 2006 Jul;113(7):1237-44. Epub 2006 May 24 doi: 10.1016/j.ophtha.2006.03.026. PMID: 16725202

Clinical prediction guides

Leblanc F, Senagore AJ, Ellis CN, Champagne BJ, Augestad KM, Neary PC, Delaney CP; Colorectal Surgery Training Group
J Surg Educ 2010 Jul-Aug;67(4):200-4. doi: 10.1016/j.jsurg.2010.06.004. PMID: 20816353

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