Psychosocial issues that face patients with CMT: the role of genetic counseling

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J Genet Couns. 2005 Jul;14(4):307-18.

Psychosocial issues that face patients with Charcot-Marie-Tooth

disease: the role of genetic counseling.

Arnold A, McEntagart M, Younger DS.

Royal Free Hospital, 8th Floor Oncology Suite, Pond Street, London,

NW3 2QG.

Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating

progressive muscular atrophy and sensory neuropathy of the distal

extremities. CMT is usually nonlife threatening. Signs of the disease

usually present in childhood or in young adulthood and the level of

disability can be variable within and between families. Research

addressing specific psychosocial and emotional issues faced by

individuals with CMT is limited. Fourteen adults with a clinical

and/or molecular diagnosis of CMT (ages 32-74 years) consented to an

audio taped interview. The format of the interview was based around

an informal questionnaire to prompt and guide the interviewee to

describe their experiences of living with a disabling genetic

disorder. The interviews focused on their experiences of first

symptoms and diagnosis, their life experience with CMT, their

limitations due to disability and the role of genetic counseling.

This study identifies and explores life issues that individuals with

CMT may face, specifically grief over the loss of independence,

emotional pain and stress such as embarrassment and guilt of passing

on a gene mutation, impact on quality of life, the impact of wearing

orthopedic devices, and fear of progressive disability. Our findings

suggest that that there are emotional and psychosocial issues

specific to affected individuals at different life stages and genetic

counselors need to be aware of these issues in order to provide age

appropriate support and advice to individuals affected by CMT.