BACKGROUND: @entity5108 ( @entity5108 ) type 2 is the axonal variant of an @entity305 . To our knowledge, the clinical course of @entity5108 has never been prospectively studied in a large group of @entity1 . OBJECTIVE: To prospectively evaluate the disease course of @entity1 with @entity5108 . METHODS: We prospectively evaluated the disease course in @entity1 with @entity5108 . Forty-three @entity1 (24 @entity1 ) of 27 families with @entity5108 were included. All @entity1 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 @entity51 . 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 @entity32852 , @entity12344 , and @entity10646 genes. RESULTS: At entry, the mean +/- SD age of the @entity1 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 @entity1 . At follow-up, more @entity1 needed walking aids, but most @entity1 remained ambulant. The number of @entity1 with @entity1848 increased, whereas the number of @entity1 with @entity5109 such as pes cavus and short @entity291 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 @entity10646 gene was found. CONCLUSION: This prospective study shows a slow deterioration of muscle strength and increase in disability in @entity5108 during a 5-year follow-up period.

Disease course of XXXX : a 5-year follow-up study.

@entity1 :: ('9606', 'Species') :: ['patients', 'men'] @entity10646 :: ('2705', 'Gene') :: ['GJB1'] @entity5109 :: ('MESH:D005530', 'Disease') :: ['foot deformities'] @entity5108 :: ('MESH:D002607', 'Disease') :: ['CMT type 2', 'Charcot-Marie-Tooth disease', 'CMT'] @entity12344 :: ('5376', 'Gene') :: ['PMP22'] @entity305 :: ('MESH:D011115', 'Disease') :: ['inherited, sensorimotor polyneuropathy'] @entity51 :: ('MESH:D009461', 'Disease') :: ['sensory deficit'] @entity1848 :: ('MESH:D037801', 'Disease') :: ['claw toes'] @entity291 :: ('9913', 'Species') :: ['calf'] @entity32852 :: ('4359', 'Gene') :: ['MPZ']
@entity5108 :: (MESH:D002607,Disease) :: ['Charcot-Marie-Tooth disease type 2']
