Spinal cord disease in women with ALD
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- Lionel McCormick
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1 Spinal cord disease in women with ALD Wouter J.C. van Ballegoij, MD Department of Neurology Academic Medical Centre The Netherlands 11:45 Dr Wouter van Ballegoij- Female Symptoms Would like to thank the organizing committee for the opportunity to speak today. I am currently working as a PhD student under supervision of Marc Engelen at the department of pediatric neurology in Amsterdam, the Netherlands. Our research primarily focuses on x-linked adrenoleukodystrophy.
2 Spinal cord disease in ALD, only the lower part of the spinal cord is affected function of the arms is normal all functions of the lower spinal cord can be affected muscle strength legs/walking sensation legs bowel and bladder activity sexual function 2 ALD can cause spinal cord disease; issues in the spinal cord below the arms, for example causing difficulties walking, numbness in the legs, bowel and bladder issues and issues with sexual function. 2
3 Terminology Adrenal insufficiency Adreno = Addison s disease Myelopathy AMN Myelo = Spinal cord disease Polyneuropathy Neuropathy = Peripheral neuropathy 3 The term AMN should not be used for women, as it describes a combination of conditions including adrenal insufficiency, which does not affect women. The other conditions it encompasses are myelopathy (spinal cord disease) and neuropathy or polyneuropathy. 3
4 Disease course in men Cerebral ALD? 4 All boys with ALD are born asymptomatic, with most developing symptoms as children. Spinal cord disease can take effect from 18 onwards. 4
5 Disease course in women Cerebral ALD? 5 Women do not get adrenal insufficiency or cerebral ALD but can get spinal cord disease. This usually happens later than in men, but 80% of women with ALD will develop symptoms. 5
6 A hereditary carrier (or just carrier), is a person that has inherited a genetic trait or mutation but does not display that trait or show symptoms of the disease. Women with ALD carriers! 6 A hereditary carrier is a person that inherits a genetic trait or mutation but does not display the trait or show the symptoms. This is not the case for 80% of women with ALD, they are not carriers so this term should not be used. 6
7 Research questions 1. What are the symptoms and signs of spinal cord disease in women with ALD? 2. How much do these symptoms increase over time? 7 The symptoms of ALD in women are less studied than in men. A study into this looked at what symptoms women have and whether these worsen over time. 7
8 46 women with ALD,
9 Baseline visit Newly recruited 19 Total number of patients 65 Age 49 (21-78) Structured neurological history and examination Quality of life questionnaire 9 Structured neurological examinations and questionnaires on history and quality of life were used to study symptoms. 9
10 Frequency of spinal cord disease increases with age - Youngest symptomatic woman: 36 years - Oldest asymptomatic woman: 73 years - 13% used walking aid 10 87% of the over 60s in the study were found to have spinal cord disease, much higher than the 18% of year olds. The youngest symptomatic women was 36, while the oldest asymptomatic women was 73. This shows a huge variability in when symptoms are taking effect. Myelopathy (%) 37/65 (57) Youngest symptomatic Oldest asymptomatic 36 years 71 years 10
11 Symptoms of spinal cord disease > 60 Problems walking Sensory deficit Urinary incontinence Faecal incontinence 11 The most frequent symptoms were walking problems and urinary incontinence. Frequency of these symptoms greatly increases with age. 11
12 Signs of spinal cord disease > 60 0 Sensory deficit Spasticity Muscle weakness Abnormal reflexes 12 Common signs of spinal cord disease in neurological examination are sensory deficits in the lower legs and abnormal reflexes. These signs also increase with age. 12
13 EDSS disability score mean range 13 Patients were given a score called EDSS, ranked from = no signs or symptoms, 10=death. 13
14 MEANING OF EDSS SCORES 0.0 No signs or symptoms 1.0 No disability, signs only 2.0 Minimal disability in one function 3.0 Moderate disability, walking distance unrestricted 6.0 Requires walking aid towalk a distance >100 meters 14 In study, range went from 0-6 with a mean of 3. 1= no symptoms, minor abnormalities in neurological investigation. 2= mild disability in one function, 3= moderate disability, issues with more than one function. 6= requires walking aid for over 100m. 14
15 EDSS > 60 TOTAL Mean Mean Mean Mean Range EDSS The youngest age group had a mean EDSS of 2, the oldest had a mean of
16 SF36 Quality of life questionnaire 16 Quality of life questionnaires revealed that symptomatic women with physical function issues had a much lower quality of life than asymptomatic women. 16
17 CONCLUSIONS 57% of 65 women were symptomatic strong connection between symptoms and age Most frequent symptoms: problems walking, urinary incontinence Most frequent signs: sensory deficit, abnormal reflexes 17 17
18 Research questions 1. What are the symptoms and signs of spinal cord disease in women with ALD? How many women are symptomatic? 2. How much do these symptoms increase over time? 18 The women were investigated again over a period of time in order to determine if there was an increase in symptoms. 18
19 Follow-up Number of women 34/46 (74 %) Mean time between visits 8 years Symptomatic at visit 1 19/34 (56 %) Symptomatic at visit 2 27/34 (79 %) 19 The women were invited back 8 years later. 19 had been symptomatic the first time, 27 were symptomatic by the time of this 2 nd visit. Median age of the 12 patients lost to follow-up was 49 years (range years). Seven (58%) were symptomatic at the initial baseline visit. Logistic regression did not show a significant relationship between age [P =.455; odds ratio (OR) ( )] and symptomatic status [P =.833; odds ratio (OR) ( )] at baseline and loss to follow-up. 19
20 EDSS mean scores EDSS mean First visit 2.8 Second visit 3.5 EDSS Visit 1 Visit 2 20 The EDSS average in the returning women was 2.8 on the first visit and 3.5 on the second visit. 20
21 Median baseline Range Median follow-up Range All women Progression rate Progression rate per year EDSS No progression on quality of life questionnaire (SF36) 21 Progression rate per year is 0.08, a very slow growth. Quality of life questionnaires did not show a change. 21
22 CONCLUSIONS DISEASE PROGRESSION Over a period of 8 years there was disease progression on EDSS, but it is minimal. 22 This slow progression is good news for women as symptoms will not worsen quickly, but this means women with ALD are generally unsuitable for clinical trials as this would have to take place over at least a 10-year period. 22
23 KEY POINTS Over 80% of women with ALD get some form of spinal cord disease during life women are not carriers! Symptoms are milder and start at higher age than in men Most frequent symptoms: walking problems and urinary incontinence There is some disease progression over a period of 8 years, but it is very slow 23 23
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