Spinal Deformities in HMSN (CMT): A Retrospective Qualitative, Quantitative, Genot

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Spine. 2007 Oct 15;32(22):2502-2508.

Spinal Deformities in Hereditary Motor and Sensory Neuropathy: A

Retrospective Qualitative, Quantitative, Genotypical, and Familial

Analysis of 175 Patients.

Horacek O, Mazanec R, CE, Kobesova A.

From the Departments of *Rehabilitation and †Neurology University

Hospital Motol, 2nd Medical Faculty, University, Prague,

Czech Republic; and ‡Department of Clinical Sciences, Cleveland

Chiropractic College, Los Angeles, CA.

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% (25 of 87); deletion of the PMP 22 gene: 0% (0 of

15); Cx32 (connexin 32) gene mutation: 24% (8 of 34); and MPZ

(myelin protein zero) gene mutation: 100% (6 of 6). Familial

incidence of spinal deformity was found in " MPZ gene mutation "

and " duplication of PMP 22 gene " subgroups.

CONCLUSION.: This study demonstrates a 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.