Figure 1: Family history of mental retardation, deafness found in the paternal side and cleft lip in the mother Click here to view Figure 2: (a-c) Magnetic resonance imaging brain shows mild hyperintensities in tectum and central tegmental tract and in [pediatricneurosciences.com]

His feet and legs turn inwards and he becomes unable to walk. He loses control over his legs and has to sit down to prevent falling. [jnnp.bmj.com]

The nine-year-old son is little mentally retarded and suffers from mild permanent motor problems and focal epilepsy with myoclonic and atonic seizures occurring as status epilepticus in fasting state responding to ketogenic diet. [thieme-connect.com]

Non-epileptic head drops Non-epileptic head drops can occur in infants and may mimic epileptic spasms or atonic seizures. [epilepsydiagnosis.org]

Lang, Dystonic Pseudo Foot Drop, Movement Disorders Clinical Practice, 2, 3, (295-298), (2015). Knut Brockmann and Hendrik Rosewich, Genetics of Paroxysmal Dyskinesia, Movement Disorder Genetics, 10.1007/978-3-319-17223-1_10, (191-211), (2015). [doi.org]

tremor An important gene associated with Paroxysmal Exertion-Induced Dyskinesia is SLC2A1 (Solute Carrier Family 2 Member 1). [malacards.org]

What this means is they may not be able to speak at all, or they may have slurred speech, or difficult accessing and articulating sounds, words and sentences. They might also experience cognitive and learning delays and disabilities. [disabled-world.com]

Affected individuals presented with decreased CSF glucose, moderate hemolytic anemia and increased percentage of acanthocytes. Erythrocytes had a four-fold increased intracellular Na and a decreased K concentration. [thieme-connect.com]