Visual impairment was present due to the presence of both cataracts and retinal dysfunction. [ncbi.nlm.nih.gov]

Genetic counseling GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a mild form of the disease. [orpha.net]

• Mobility Impairment

  The cognitive impairment observed in childhood remains and movement disorders observed in those early years may progress to more significant mobility impairment. Movement disorders may also arise in adolescence and adulthood. [epilepsy.com]

• Shivering

  Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering. [ncbi.nlm.nih.gov]

• Progressive Intellectual Disability 

  Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. [ncbi.nlm.nih.gov]

• Hepatosplenomegaly

  We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation [ncbi.nlm.nih.gov]

  In our two adult cases, cataracts and hepatosplenomegaly were noted, but no brain imaging was available ( 11 ). [academic.oup.com]

• Painful Muscle Cramps

  Moreover, many different movement disorders, including ataxia and intention tremor, dystonia, chorea, spasticity, myoclonus and nocturnal painful muscle cramps in the legs, are a recognised part of the clinical spectrum and included in the phenotype of [jnnp.bmj.com]

• Short Attention Span

  Behavioral symptoms affect relations with other people and may include short attention span, intractability, and delays in achieving age-appropriate behaviors. Sociability with peers, however, is a strength in Glut1 Deficiency patients. [en.wikipedia.org]

• Hyperreflexia

  […] deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysarthria Difficulty articulating speech 0001260 Extrapyramidal dyskinesia 0007308 Generalized hyperreflexia [rarediseases.info.nih.gov]

  He had lower limb spasticity and hyperreflexia, mild dysarthria, truncal ataxia, intention tremor, poor coordination, and difficulty carrying out complex motor tasks. [doi.org]

• Delayed Speech and Language Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• Babinski Sign

  Signs and symptoms generally develop within the first few months of life and may include recurrent seizures ( epilepsy ) and involuntary eye movements. [rarediseases.info.nih.gov]

• Spastic Gait

  The majority of subjects exhibit some kind of gait disturbance which varies in severity from mild ataxia to a spastic gait and inhibition of independent walking ability. [epilepsy.com]

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. JAMA Neurol. 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. Review. [ghr.nlm.nih.gov]

[…] absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 61 24 Larsen J...Moller RS 26537434 2015 3 Long-term clinical course of Glut1 deficiency syndrome. 61 24 Alter AS...De Vivo DC 24789115 2015 4 Cerebrospinal fluid analysis in the workup [malacards.org]

While 9 out of 10 patients with GLUT1-DS became seizure-free with dietary treatment, only 3 out of the 33 remaining patients were seizure-free with KD or MAD treatment. [ncbi.nlm.nih.gov]

In particular, UX007 is proposed as an alternative treatment in patients who are not on, or not compliant with, a ketogenic diet. [epilepsy.com]

Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children. [ncbi.nlm.nih.gov]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [checkorphan.org]

"These factors were correlated in a predictive mathematical model designed to guide prognosis on the basis of clinical features at diagnosis," he added. [sciencedaily.com]

Since early diagnosis and prompt implementation of the KD is believed to improve the long-term prognosis of patients with Glut1 DS, it is vital that neurologists recognize these episodes as an early diagnostic clue to the disease. [doi.org]

Etiology In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Diagnostic methods Diagnosis is based on the clinical picture and biochemical analysis of the cerebrospinal fluid (CSF). [orpha.net]

Patients and their families are given the opportunity to participate in research on a cellular and clinical level so that advances can be made in understanding the etiology and clinical course of particular disease pathways. [giblinlab.org]

Moreover, diagnostic confirmation is either painfully invasive (spinal tap) or staggeringly expensive (genetic blood test). 1-2 Etiology and Pathophysiology In GLUT1 DS, the brain suffers from a paucity of glucose, a fuel which serves as the brain’s primary [raredr.com]

GLUT1-DS De Vivo disease Encephalopathy due to GLUT1 deficiency Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: G93.4 OMIM: 606777 UMLS: C1847501 MeSH: - GARD: 9265 MedDRA: - Summary Epidemiology [orpha.net]

Institute of Human Genetics, Jena, Germany (3) Department of Pediatric Neurology, Hacettepe University School of Medicine, Ankara, Turkey References Birch HG, Richardson SA, Baird D, Horobin G, Ilsley R: Mental subnormality in the community: A clinical and epidemiological [molecularcytogenetics.biomedcentral.com]

The underlying pathophysiology for this phenomenon in GLUT1DS is not known, but may relate to cortical energy failure or abnormal cerebral microvasculature. [ncbi.nlm.nih.gov]

Moreover, diagnostic confirmation is either painfully invasive (spinal tap) or staggeringly expensive (genetic blood test). 1-2 Etiology and Pathophysiology In GLUT1 DS, the brain suffers from a paucity of glucose, a fuel which serves as the brain’s primary [raredr.com]

His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models. [books.google.com]

The pathophysiologic mechanism underlying paroxysmal eye–head gaze saccades in Glut1 DS is unknown. [doi.org]

Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit [escholarship.umassmed.edu]

Through a combination of laboratory studies, natural history studies, and therapeutic trials, the goal of the Colleen Giblin Research Laboratories is to provide a scientific foundation for ultimately finding more effective treatments and preventive therapies [giblinlab.org]

Their blood, organs and bodies are carefully monitored by doctors to watch for and try to prevent possible issues caused by the diet. [disabled-world.com]

Their blood, bodies and organs are carefully monitored by doctors to watch for and try to prevent potential problems caused by the diet. [milestonesforchildren.org]