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Disability and quality of life in Charcot-Marie-Tooth disease type 1
G Pfeiffer1, E M Wicklein, T Ratusinski
1Department of Neurology, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. pfeiffer@uke.uni-hamburg.de
Insights
For Charcot-Marie-Tooth disease type I (CMT1), a Rankin score above 2a indicates significant disability relevant for genetic counseling. This level of disability, impacting daily activities, was found in 44% of patients, influencing decisions about childbearing.
Area of Science:
- Neurology
- Genetics
- Disability Studies
Background:
- Charcot-Marie-Tooth disease type I (CMT1) is a hereditary neuropathy with variable handicap.
- The threshold for disability relevant to genetic counseling in CMT1 is not well-defined.
Purpose of the Study:
- To define the level of disability in CMT1 that is relevant for genetic counseling.
- To assess the impact of disability on patients' attitudes towards childbearing.
Main Methods:
- 50 CMT1 patients were evaluated using the Hauser ambulation index and Rankin scale.
- Rankin score 2 was subdivided (2a/2b) to refine disability assessment.
- Patients' attitudes towards childbearing based on disease severity were surveyed.
Main Results:
- A Rankin score > 2a reliably identified disability relevant for childbearing decisions.
- 44% of patients exhibited a Rankin score > 2a.
- 36% of patients would refrain from childbearing if children faced similar disability.
Conclusions:
- Subdividing the Rankin score enhances assessment of long-term disability in neuromuscular disorders.
- Marked slowness in daily activities (Rankin 2b) signifies disability relevant for reproductive choices.
- Emotional and psychosocial impact of CMT1 is comparable to stroke patients with similar disability levels.
Objectives:
Charcot-Marie-Tooth disease type I (CMT1) is a hereditary sensorimotor neuropathy causing variable degrees of handicap. The risk for relevant disability in respect to genetic counselling is unknown. An attempt was made to define it.
Methods:
Disability and ambulation of 50 patients with CMT1 were scored by the Hauser ambulation index score and the Rankin scale. Rankin score 2 was subdivided into 2a (independent without relevant slowness) and 2b (independent, though at the cost of excessive time consumption). The sickness impact profile was assessed and compared with patients 6 months after stroke who were without mental deficit. To define at which degree sickness and disability become relevant for genetic counselling, the patients were asked whether they would refrain from childbearing if the children were at risk of inheriting a disease that caused as much disability as they experienced themselves.
Results:
Subdivision of Rankin score 2 was reliable and improved validity. High disability significantly predicted an attitude against childbearing (stepwise logistic regression) only with this subdivision. Thirty six per cent of the patients voted against childbearing. The cut off for relevant disability in respect to childbearing was a Rankin score higher than 2a, which was present in 44% of the patients. Psychosocial impact was comparable with patients with stroke and similar disability. Depression was present in 18% of the patients.
Conclusion:
Subdivision of Rankin score 2 is recommended for the assessment of longstanding disability in neuromuscular disorders. Disability becomes relevant for the attitude towards childbearing as soon as everyday activities become markedly slow (Rankin score 2b). Relevant disability occurred in 44% of the patients. Emotional stress in CMT is similar to that of patients with stroke and comparable disability.