Foot Deformities in Children With Hereditary Motor and Sensory Neuropathy

Abstract

The authors reviewed 104 feet from 52 consecutive children with hereditary motor and sensory neuropathy (HMSN) seen for the first time in clinics in two pediatric institutions between 1996 and 2003. Sixty-nine feet had a cavovarus deformity, 23 feet had a planovalgus deformity, and 12 feet had no significant deformity. All cases with deformity had bilateral involvement, and of those with deformity, only 45% had symmetric involvement. In HMSN I, III, IV, V, and X-linked HMSN, cavovarus was the most common deformity. However, in HMSN II, 55% of feet had a planovalgus deformity, 36% had a cavovarus deformity, and 9% had no deformity. In all, 43 feet underwent surgery of some type. Surgery, and in particularly combined bony and soft tissue procedures, was performed much more frequently on feet with cavovarus than planovalgus deformities. Soft tissue surgery alone was performed at an earlier age than combined bony and soft tissue surgery.

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family

“…Contrariwise, pes cavus is just mentioned in 20 out of 62 (32%) so far reported CMT2J patients [15,29,41,43], though in one series all 16 patients showed either pes cavus (11 cases) or pes planus (5 cases) [29]. Adult symptomatic onset in CMT2J, after completion of bony development, most probably accounts for the low range of pes cavus in comparison with any other early onset CMT1 or CMT2 syndromes [3,6,10,48]. In our pedigree both the proband and her affected son, with symptomatic onset at 40 and 27 years, showed marked and unnoticed forefoot pes cavus and massive wasting of intrinsic foot musculature, a fact suggesting that the process of distal axonopathy in lower leg nerves was initiated much earlier to the stated age of symptomatic onset.…”

Clinical correlates of charcot–marie–tooth disease in patients with pes cavus deformities

“…Although rarely identified at birth, its appearance is age‐dependent, and 62.5–87% of cases are seen by adolescence . Two studies with 52 and 66 CMT patients, respectively, identified 66–83% with cavus or cavovarus presentations; the remainder were valgus or planovalgus . In the CMT1A population, cavovarus feet occurred in 72%, whereas, in CMT2A patients, 55% had planovalgus feet.…”

“…In the CMT1A population, cavovarus feet occurred in 72%, whereas, in CMT2A patients, 55% had planovalgus feet. This difference for CMT2 may be due to balanced atrophy within anterior and posterior compartment muscles …”

Symmetry of foot alignment and ankle flexibility in paediatric Charcot–Marie–Tooth disease

“…Indeed the original description by Charcot and Marie in 1886 shows gross foot and ankle asymmetry (Figure 1) (Charcot and Marie, 1886). Retrospective chart reviews have previously identified a small proportion of children (4 of 52) with one cavovarus and one planovalgus foot (Wines et al, 2005), and a small proportion of adults (5 of 61) with pes cavus and ankle contracture asymmetry (Bienfait et al, 2006). However, these studies are limited by their retrospective design and unclear methods of foot and ankle assessment.…”