Exerciții pentru boala Pompe (deficit GAA) — era TER: aerobic gradat + forță ușoară SIGURE (van der Beek 2011) + îngrijire respiratorie obligatorie

Kishnani 2006/2018 + ACMG 2020 + Pompe Registry framework. Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by GAA gene mutations leading to acid α-glucosidase deficiency and lysosomal glycogen accumulation in skeletal and cardiac muscle. Two main forms: classic infantile-onset (IOPD, presenting <12 months with cardiomyopathy + hypotonia + 'floppy infant' + respiratory failure — historically fatal by 1-2 years without enzyme replacement) and late-onset (LOPD, presenting child through adult years, predominantly skeletal-muscle weakness in proximal distribution + respiratory failure as leading mortality cause, cardiac involvement uncommon). The therapeutic landscape was revolutionized starting 2006: alglucosidase alfa (Myozyme/Lumizyme, FDA 2006 — first ERT approved for any lysosomal storage disorder), avalglucosidase alfa (Nexviazyme, FDA 2021, improved muscle uptake via M6P receptor targeting), cipaglucosidase alfa + miglustat combination (Pombiliti+Opfolda, FDA 2023). Exercise framework per van der Beek 2011 + Favejee 2015 + Terzis 2011: graded aerobic + light strength IS safe and improves 6MWD + reduces fatigue + does NOT raise CK or worsen disease — overturned the pre-ERT era 'avoid all exercise to preserve muscle' doctrine. AVOID exhaustion (lysosomal damage). Respiratory care is CRITICAL — BiPAP + cough assist + diaphragmatic strength training preserve function as long as possible. United Pompe Foundation + AMDA + International Pompe Association + MDA.

Volya's catalogue carries the foundation moves: supported-glute-bridge for posterior chain low-intensity (proximal weakness pattern), wall-push-up for upper-body push at low load, scapular-retraction for upper-back posture, cat-cow for spinal mobility, supine-knee-to-chest for low-back release + hip flexor stretch, diaphragmatic-breathing as the central respiratory training (THE most important move for LOPD given respiratory mortality), pursed-lip-breathing for dyspnea + respiratory muscle endurance, seated-march for cardio without joint impact, sit-to-stand for functional + bone-loading within ability. The AI coach also knows the nutrition side — SLONIM DIET high-protein 25-30% calories + low-carb Mediterranean-flavored (historical Slonim 1983/2007 protocol — reduces glycogen substrate, modern Pompe Registry shows benefit ALONGSIDE ERT, not replacement), protein 1.5-2.0 g/kg/day adults LOPD + leucine 2.5-3 g per meal, L-alanine + L-carnitine may improve muscle energetics (metabolic team), anti-inflammatory Mediterranean + omega-3, respiratory protective adequate caloric/protein + BiPAP coordination, Ca + vit D + DEXA, dysphagia advanced cases SLP + soft textures + PEG when severe, AVOID high-glycaemic + SSBs (glycogen substrate) + long fasts (energy crash + muscle catabolism), creatine 3-5 g modest benefit Terzis 2009. CRITICAL: United Pompe Foundation + AMDA + IPA + MDA + metabolic geneticist (Pompe-experienced) + pulmonology + cardiology IOPD + SLP if dysphagia + family genetic counselling (autosomal recessive — sibling + carrier testing). This is NEVER a replacement for Pompe-experienced metabolic geneticist care.