Spinal Deformities in Hereditary Motor and Sensory Neuropathy

Abstract

Study Design. Retrospective study of 175 patients with hereditary motor and sensory neuropathy (HMSN), i.e. Charcot-Marie-Tooth (CMT) Disease Objective: To investigate the frequency, age of onset, character, familial and genotypical incidence of spinal deformities among HMSN patients. Summary of Background Data: Prior studies addressing HMSN discuss the associated spinal deformities. However these data vary significantly, while inconsistently including genotypes within the classification framework. Methods: Plain-film radiographic spine studies of 175 HMSN patients were performed to determine the incidence, character, and severity of spinal deformity. The degree of the spinal deformity was evaluated measuring Cobb's angle of the main curve. The results of the entire cohort were initially assessed before being classified by genotype. Results: The incidence of spinal deformity for the entire group was 26%. Of these, 58% demonstrated scoliosis, 31% had kyphoscoliosis and 11% had thoracic hyperkyphosis. 73% of patients with spinal deformity were classified as HMSN type I with confirmed duplication of the PMP 22 (peripheral myelin protein) gene on chromosome 17. The incidence of spinal deformity by genotype was: duplication of the PMP 22 gene: 29%; deletion of the PMP 22 gene: 0%; Cx32 (connexin 32) gene mutation: 24%; and MPZ (myelin protein zero) gene mutation: 100%. Familial incidence of spinal deformity was found in "MPZ gene mutation" and "duplication of PMP 22 gene" subgroups. Conclusions:The study demonstrates as 26 % incidence of spinal deformity among HMSN patients. Spinal deformity was most frequently observed in patients with the MPZ gene mutation, where the most common familial incidence was also found. * Structured Abstract (300 words)Spinal deformities in HMSN Key Points:  A group of 175 HMSN patients was analyzed.  Spinal radiographs of the entire cohort demonstrated spinal deformity in 45 (26%) patients.  Four genotypes were found (duplication or deletion of the PMP 22 gene on chromosome 17, mutation of the Cx 32 gene and mutation of the MPZ gene).  Spinal deformity rates varied significantly by genotype. The highest percentage incidence of spinal deformity was found in patients demonstrating the MPZ gene mutation (100%).  Familial incidence was observed in 4 families. The mutation MPZ gene mutation was confirmed in three of these. Key Points (3-5 main points of the article)Spinal deformities in HMSN Mini Abstract/PrécisWe performed radiographic analyses on 175 HMSM patients. Spinal deformity was present in 45 patients (26%), with incidence rates varying by genotype. Spinal deformity prevalence by genotype was greatest with the MPZ mutation (100%). Familial incidence was found in four families, with the MPZ mutation noted in three.

Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity

“…However, the prevalence of cases with both CMT and spinal deformity is very low in the Czech Republic. In our previous study [4], these patients comprised only 26% of the overall study sample that underwent examination. Movement limitations, commuting, and the non-intervention nature of this study are additional barriers with respect to patient recruitment.…”

“…Gait abnormalities, foot deformity and distal sensory deficits of the legs are also typical [2,3]. Finally, spinal deformities are present in some patients [4][5][6][7].…”

Charcot-Marie-Tooth: From Molecules to Therapy

“…The slowly progressive nature of the condition (as opposed to an immune-mediated etiology) and noticeable length-dependent weakness/atrophy (rather than a predominantly stocking glove sensory loss with minimal to no weakness more typical of common metabolic-toxic neuropathies) are clinical clues to CMT in addition to uncovering any suggestive family history. The majority of patients also have pes cavus as a hallmark feature with smaller percentages having scoliosis, hip dysplasia, restless legs syndrome, tremor, or hearing loss [9,10,11,12,13,14,15,16,17].…”

Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

“…It might be associated with the massive scoliosis in this patient. Scoliosis is often observed in CMT and particularly frequent in patients associated with MPZ mutation [ 64 ]. Scoliosis may have caused compression trauma of nerve roots [ 65 ], a possible cause of neuromatous nerve fiber outgrowth [ 66 ].…”