Disease relevance of Foot Deformities

• Scoliosis and ECG evidence of cardiomyopathy were found in over two-thirds of the patients studied; pes cavus, distal amyotrophy, optic atrophy, nystagmus and deafness were all less frequent [1].
• However, the abnormal feet did not fit consistently with structures defined for RA, pes planus, or pes cavus foot types [2].
• A critical triad (neuropathy, minor foot trauma, foot deformity) was present in > 63% of patient's causal pathways to foot ulcers [3].
• A new mutant, peroneal muscular atrophy (pma) mouse in CF#1 strain has an autosomal recessively inherited equinovarus (club foot deformity) of the hind legs because of the absence of the common peroneal nerve branch of the sciatic nerve [4].
• We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus [5].

Psychiatry related information on Foot Deformities

• A sibship originally reported by Friedman and Roy as showing severe mental retardation, strabismus, hyperactive tendon reflexes, lalling speech, and foot deformities was restudied [6].
• The subject subsequently developed dementia, pes cavus (Friedreich's feet), epilepsy, myoclonus, and Parkinsonian syndrome, but demonstrated neither tremor nor choreoathetoid movement [7].

High impact information on Foot Deformities

• Allopurinol-associated hand and foot deformities in chronic tophaceous gout [8].
• Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes [9].
• Associated neurologic signs included dystonia, scoliosis, and pes cavus [10].
• These patients had a lower occurrence of decreased vibration sense, pes cavus, and echocardiographic signs of left ventricular hypertrophy than the 90 FA patients with areflexia [11].
• She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease [12].

Chemical compound and disease context of Foot Deformities

• Similarly, Marcaine 0.25% (or similar anesthetic agents) injected into the nerve at the ankle or foot will assist in determining surgical procedures to correct foot deformities [13].
• Impaired glucose control over a period of years affects peripheral nerve function by loss of protective sensation, muscle atrophy, foot deformity, and neuropathic fractures [14].

Anatomical context of Foot Deformities

• The 12-year-old propositus had childhood-onset CMT1B associated with bilateral pes cavus, moderate lower limb weakness, and mildly reduced sensory qualities in the distal legs [15].
• Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages [16].
• Charcot-Marie-Tooth disease (CMT) is characterized by distal muscle weakness and wasting, often resulting in foot deformities and gait disturbances, distal sensory impairment and by more or less typical changes in sural nerve biopsy [17].
• We describe the case of a mentally retarded young man with marked biventricular hypertrophy, skeletal myopathy, and bilateral pes cavus, in whom desmin accumulation was documented in cardiac and skeletal muscle biopsies [18].
• In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions [19].

Gene context of Foot Deformities

• Their manifestations include microcephaly, a large anterior fontanel, short nose with anteverted nostrils, club foot deformity, retarded psychomotor development and, in the index case only, kidney hypoplasia and dysplasia [20].
• Foot deformities in diastrophic dysplasia. An analysis of 102 patients [21].
• Severe foot deformities in which either surgery or botulinum toxin injection was recommended correlated with current age, years since disease onset, and years that the patient required a wheelchair for mobility, but not with the GAA repeat size or age at disease onset [22].
• The frequency of pes cavus, scoliosis, axonal sensory neuropathy and areflexia increased with the size of GAA1, whereas some signs such as sphincter disturbances, cerebellar atrophy on MRI, amyotrophy, dysarthria and decreased vibration sense were associated with increased duration of the disease [23].
• Pain was not explained by other diseases causing foot pain, like reflex sympathetic dystrophy, polyneuropathy, Morton's neuralgia, gout, osteoporosis, avascular necrosis, intermittent claudication, orthopaedic foot deformities, stress fractures, and hyperparathyroidism [24].

Analytical, diagnostic and therapeutic context of Foot Deformities

• The preliminary results based on a three year retrospective study in cavus foot deformity of forty-four Friedreich ataxia patients regularly seen at the Neuromuscular Disease Clinic of Sainte-Justine Hospital have been presented [25].

References