In CMT: Persistence of range of motion in dorsiflexion, when the triceps surae m

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Eura Medicophys. 2006 Sep 24

Persistence of range of motion in dorsiflexion, when the triceps

surae muscles weaken, worsens stance and gait in Charcot-Marie-Tooth

disease. A case report.

Vinci P.

Unit of Rehabilitation of Charcot-Marie-Tooth Disease and other

Neuromuscular Disorders, Specialized Rehabilitation, Hospital

Spolverini, Ariccia, Rome, Italy.

Charcot-Marie-Tooth disease is a genetically heterogeneous disorder,

characterized by length dependent degeneration of motor and sensory

nerve fibers. The variability in clinical severity is typical, and is

considered the result of environmental factors interacting with the

genotype. We report the case of 2 sisters who present the same muscle

involvement, with complete atrophy below the knees, but a very

different degree of disability: the milder affected sister can walk

independently for 1 km, the more severe for 50 m only.

The factor, responsible for the different functional impairment, is

the persistence of ankle dorsiflexion. This is the result of

prolonged stretching of the heel cords in the more severely affected

sister, which destabilizes stance and ambulation. On the contrary,

the milder affected sister presents a slight equinus deformity well

compensated by wearing shoes with a bit of heel.

The presented cases and biomechanics suggest that the persistence of

range of motion in dorsiflexion, when the triceps surae muscles

weaken beyond a certain degree, represents an important negative

factor of clinical variability in Charcot-Marie-Tooth disease; this

can be averted by correct rehabilitation management.