Date of Award

2015

Document Type

Scholarly Project

Degree Name

Doctor of Physical Therapy (DPT)

Department

Physical Therapy

First Advisor

Mark Romanick

Keywords

Charcot-Marie-Tooth Disease -- therapy; Case Reports

Abstract

Background and Purpose: Charcot-Marie-Tooth (CMT) is the most common inherited peripheral neuropathy and affects both motor and sensory nerves. Clinical presentation is similar among all types and results in distal muscle atrophy and weakness, diminished sensation and proprioception, and balance and gait disturbances. Pes cavus is a prominent feature. Although gene therapy and neurotrophic growth factors show promise as treatment, physical therapy remains the most viable option at this time. The purpose of this case report is to determine the effect that physical therapy may have on both physical and psychological outcomes related to CMT.

Case Description: Patient was a 51-year-old-female presenting to physical therapy with a diagnosis of CMT. She presented with lower extremity pain, muscle weakness and atrophy, diminished or absent sensation and proprioception, gait deviations, and increased difficulty navigating stairs. Her main goal was to remain an independent ambulator for as long as possible. Her pain was managed with gabapentin. She did not report any involvement with her upper extremities.

Intervention: A resistance training program focusing on balance, stepping activities and lower extremity strength was initiated carried out as an outpatient and home exercise program. Massage and soft tissue work was applied to the legs and feet.

Outcome: The patient was seen for 18 total visits. At discharge, her balance, tandem stance, lower extremity strength all improved. She reported feeling more confident with ambulation and was less anxious about the disease process. A referral to a podiatrist was given for custom orthotics.

Discussion: Patient's with CMT often report difficulty with mobility and ambulation, specific activity impairments, fatigue, and emotional distress. In spite of this, they are often not referred to or attend physical therapy as the perceived benefit is small.

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