PT Journal
AU Lankova, B
   Vostry, M
   Kvochova, V
   Pesatova, I
   Beranova, R
   Stolova, I
TI LIFE WITH GLYCOGENOSIS IXa: DELAYED DEVELOPMENT AND THE PATH TO THERAPY IN A CASE STUDY
SO EduPort
PY 2025
VL 9
IS 1
DI 10.21062/edp.2025.001
DE glycogenosis; metabolic disorders; psychomotor retardation; multidisciplinary collaboration; helping professions; delayed development
AB This article presents a case study of a child diagnosed with glycogenosis IXa, a rare metabolic disorder caused by a deficiency of phosphorylase b kinase, which disrupts glycogen metabolism and leads to its accumulation in the liver. This condition results in a range of clinical manifestations, including hepatomegaly, hypoglycemia, muscle hypotonia, delayed psychomotor development, and other neurological impairments. The study focuses on a detailed description of the patient's clinical symptoms, which include difficulties with gross and fine motor skills, delayed speech and cognitive development, reduced physical activity, and problems maintaining balance. As part of the proposed therapy, the article highlights the importance of a multidisciplinary approach encompassing medical, rehabilitative, psychological, and educational care. Various rehabilitation methods are discussed, including proprioceptive neuromuscular facilitation (PNF), acral coactivation therapy (ACT), and sensorimotor stimulation, all aimed at increasing muscle tone, improving motor functions, and enhancing coordination. Speech therapy focuses on the development of speech and communication skills, with interventions tailored to the child's individual needs. Pharmacological treatment includes the administration of nootropics to support the development of the central nervous system, and dietary therapy also plays a crucial role, aiming to prevent hypoglycemia and promote growth through a diet rich in proteins and complex carbohydrates. The presented case underscores the significance of multidisciplinary team collaboration and individually tailored therapeutic approaches to ensure optimal care for patients with glycogenosis IXa. The study also opens avenues for further research into the long-term effectiveness of various therapeutic methods, with the goal of improving patients' quality of life and minimizing complications associated with this chronic metabolic disorder.
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