Rarely, CMT arises in early infancy (Dejerine–Sottas and congenital hypomyelination diseases) with a severe phenotype characterized by hypotonia and delay in motor milestones. CMT is a slow progressive disease, usually with onset in the second or third decade. CMT is usually transmitted as an autosomal dominant trait, although rarer X-linked (CMTX) or recessive forms have been reported. ĬMT is a genetically heterogeneous disorder (Table 1), classified into demyelinating (CMT1 and CMT4), axonal (CMT2 and CMT4), and intermediate (CMT, CMTX, CMT2E) forms, and caused by mutations in several genes coding for structural myelin proteins, gap-junction proteins, cytoskeleton components, enzymes, or transcription factor. Prevalence is estimated at about 17–40 per 100,000. The most common form of HPN is hereditary motor and sensory neuropathy (HMSN), also called Charcot–Marie–Tooth (CMT) disease.
We will therefore discuss only the clinical features and genetic basis of HPN associated with pes cavus. įoot deformities, including pes cavus, hammer toes, and twisting of the ankle, are commonly present in some HPN forms, such as Charcot–Marie–Tooth (CMT) disease, hereditary neuropathy with predisposition to pressure palsies (HNPP), and distal hereditary motor neuropathy (DHMN), but are uncommon in the other HPN. Hereditary peripheral neuropathies (HPN) are a heterogeneous group of peripheral nerve disorders, clinically characterized by sensorial and/or motor impairment, with reduction or absence of deep tendon reflexes. Herein, we discuss the hereditary peripheral neuropathies (HPN) in which pes cavus plays a key role as a “spy sign.” A clear, complete, and detailed review of clinical and molecular features of these rare disorders may be useful in clinical management and differential diagnosis of patients who present with pes cavus as almost single sign of disease. A previous retrospective analysis of patients undergoing pes cavus surgery revealed that almost one-third of apparently idiopathic cases suffered from a neurological disease.
Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a “spy sign,” discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rare diseases.įrequently, pes cavus may be a sign of an underlying neurological disorder, including spinal cord and peripheral nerve pathologies, such us spino-cerebellar ataxia and hereditary peripheral neuropathies. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system.
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