Sánchez RM, Mateo DJA, Aguilera MY, Castillo MPO

Language: Spanish
References: 18
Page: 209-215
PDF size: 83.00 Kb.

ABSTRACT

Glucose transporter type1 deficiency syndrome is a rare metabolic disorder that classically is characterized by drug resistant seizures, neurodevelopmental delay, movement disorders and other manifestations associated to hypoglycorrhachia. The ketogenic diet is its standard of care. This is a 10 years old girl diagnosed with this syndrome, the only patient reported in Cuba. The goal of this investigation is to determine the impact of clinical manifestations on the patient functional performance and to determine neurological, functional changes and early onset complications induced by the introduction of physical exercise. There was variation in the gross motor function after the physiotherapy program. Submaximal exercise was well tolerated by the patient without fatigue or complications.

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