Neurologic findings can manifest in childhood (ages 2-15 years) as four-limb dystonia,
leading to a characteristic high-stepping gait (" cock-walk gait"), dysarthria, fine tremor, and …

Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A
movement disorder resulting from manganese accumulation in the basal ganglia. Whole …

HMNDYT2 is an autosomal recessive neurodegenerative disorder characterized by
SLC39A14 deficiency leading to impaired hepatic manganese uptake with resultant …

SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor
developmental milestones (eg, delayed walking, gait disturbance) between ages six months …

Objective: NA Background: Hypermanganesemia with dystonia type 2 is an established, rare
autosomal recessive partially reversible neurodegenerative condition characterised by …

Background Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare,
inherited disorders of manganese transport. Objectives We aimed to describe clinical …

CLINICAL CHARACTERISTICS: The disorder dystonia/parkinsonism, hypermanganesemia,
polycythemia, and chronic liver disease is characterized by the following: A movement …

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive
neurodegenerative disorder characterized by the loss of previously acquired milestones …

Hereditary disorders of manganese metabolism: pathophysiology of childhood-onset
dystonia-parkinsonism in SLC39A14 mutation carriers and genetic animal models …

Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare 13
genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 14 …