CMT 2 disease course: a 5 year follow-up study

November 25, 2006

(A REPOST FROM 2003)

Arch Neurol. 2003 Jun;60(6):823-8. Comment in:

Arch Neurol. 2004 Sep;61(9):1470; author reply 1470.

Disease course of Charcot-Marie-Tooth disease type 2: a 5-year

follow-up study.

Teunissen LL, Notermans NC, Franssen H, Van Engelen BG, Baas F,

Wokke JH.

Department of Neurology, Rudolf Magnus Institute, University Medical

Center Utrecht, Utrecht, The Netherlands.

BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 2 is the axonal

variant of an inherited, sensorimotor polyneuropathy. To our

knowledge, the clinical course of CMT type 2 has never been

prospectively studied in a large group of patients.

OBJECTIVE: To prospectively evaluate the disease course of patients

with CMT type 2.

METHODS: We prospectively evaluated the disease course in patients

with CMT type 2. Forty-three patients (24 men) of 27 families with

CMT type 2 were included. All patients were analyzed by the same

investigator at entry and after 5 years. The standardized protocol

included manual muscle testing, which could lead to a motor sum

score of 140 points, and quantification of sensory deficit.

Disability was assessed using the modified Rankin scale, and quality

of life was assessed using the RAND 36-item health survey

questionnaire. Eighteen families were tested for known mutations in

the MPZ, PMP22, and GJB1 genes.

RESULTS: At entry, the mean +/- SD age of the patients was 52 +/- 14

years, and the mean +/- SD duration of disease was 12 +/- 8 years.

The median motor sum score deteriorated from 135 to 128 points (P

=.02). Progression was never rapid. There was no sensory

deterioration. The Rankin score decreased by 1 point in 16 patients.

At follow-up, more patients needed walking aids, but most patients

remained ambulant. The number of patients with claw toes increased,

whereas the number of patients with foot deformities such as pes

cavus and short calf muscles remained stable. There was no

correlation between deterioration and age. Analysis of quality of

life did not show any changes. In one family, a mutation in the GJB1

gene was found.

CONCLUSION: This prospective study shows a slow deterioration of

muscle strength and increase in disability in CMT type 2 during a 5-

year follow-up period.

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