Neuromuscular Studies in Clubfoot

Leg muscle atrophy in idiopathic congenital clubfoot: Is it primitive or acquired?

“…However, at light microscopy, no evidence of muscle fiber degeneration could be detected, thus, suggesting a neuromuscular disease as a possible pathogenetic factor in CCF. On the other hand, this hypothesis has been ruled out by several studies performed on biopsy specimens of patients with CCF, where the only recurrent microscopic finding was a relative increase of type I fibers in the musculature of the affected leg [21][22][23][24][25][26][27]. Therefore, according to Gray and Katz [22], wasting of leg musculature in CCF can only be due to a reduction in the number of muscle fibers.…”

Pé torto congênito

“…7,[30][31][32][33][34][35][36][37][38][39] The discovery of the existence of fibrotic tissue in the muscles, fasciae, ligaments and tendon sheaths of the posteromedial region of the ankle and hindfoot 18,20 corroborates the hypothesis of primary defect of soft parts and neuromuscular units that lead to bone alterations. 16,18,21,22,24,26,40 The cytocontractile proteins and myofibroblasts identified in the posteromedial contractured tissues of the hindfoot 30,34 are structurally similar to those present in palmar fibromatosis and express high levels of type III collagen and certain growth fac-tors, when compared to the non-contractured tissues. 41,42 Shortening, fibrosis and retraction of the muscles and ligaments in CC are said to be genetically induced, resulting in abnormal retraction capacity that could possibly be related to primary congenital deformities and also to relapses that occur, even after adequate treatment.…”

“…With etiology still unknown, several theories were proposed to explain the origin of CC, considering intrinsic or extrinsic causes, including: intrauterine position of the fetus, mechanical compression or increase of intrauterine hydraulic pressure 10,11 ; interruption in fetal development 12 ; viral infections 13 ; vascular deficiencies 14,15 ; muscular alterations [16][17][18][19][20] ; neurological alterations [21][22][23][24][25][26][27] ; defect in the development of bones structures 3,28,29 and genetic defects. 7,[30][31][32][33][34][35][36][37][38][39] The discovery of the existence of fibrotic tissue in the muscles, fasciae, ligaments and tendon sheaths of the posteromedial region of the ankle and hindfoot 18,20 corroborates the hypothesis of primary defect of soft parts and neuromuscular units that lead to bone alterations.…”

Doğuştan çarpık ayak etiyolojisi

“…Konjenital kas lif tipinin dağılımın-daki dengesizlik (Tip 1 ve Tip 2 kas lifleri arasında), özellikle peroneal ve triceps surae kaslarında, Tip 1 liflerde atrofi, histolojik spesimenlerde gösterilmiştir. [8] PEV hastalarının sinoviyal sıvısında sinir liflerinin azalmış dansitesi, duyusal uyaranların yokluğu/eksikliği, PEV'le ilişkili fibrozis ve kontraktürlerden sorumlu tutulabilir. [9] Ancak, tam tersine, Tip 1 liflerde indikatif özellik bulunamadığı ve PEV etiyolojisinde nöromus-küler anormalliklerin sorumlu olduğu teorisini desteklemeyen yayınlar da mevcuttur.…”