At a recent MND MDT clinic appointment with a Consultant Neurologist, I asked about genetic testing...
35 years ago, my father (30 years older than me) had EMG / NC studies at the same hospital. Although no formal diagnosis of a specific illness (MS and Parkinsons were initial concern), he was told he had mylelin sheath degradation and some motor nerve function impairment. Due to other acute matters shortly after (mainly stroke), there wasn't much more work done on neuromuscular aspects.
By his 70s he had trouble doing much with his arms above chest height and had a lot of arm weakness and nerve pain issues and atrophy in upper arms.
He had knee replacement surgery last year, the Orthopaedic Hospital are now suggesting his lack of expected recovery would seem to be due to wider neuromuscular weakness aspects and nothing wrong with the new knee implant. He has significant foot drop now too and leg muscle atrophy.
I noticed last week he has first dorsal interossi wasting and fasciculations in one hand, the same as how visible symptoms started with my confirmed limb onset ALS.
Apart from him having leg muscle atrophy, his other symptoms are the same as my own.
Apparently the question of genetic testing was answered:-
"Unfortunately you are 54, the NHS doesn't have a policy of testing over 50, it's not made of money..."
(I'm aware that some senior Professors of neurology are 'uncomfortable' with arbitrary age cut offs for testing around the world).
We often see standard deviation curves of MND onset being diagnosed around age 55 - therefore an age 50 cut-off seems perverse.
I'm also aware that in some hereditary conditions, an offspring could present and be diagnosed years before a parent.
It feels like a gap here, both personally and generally.
Does the MNDA have an opinion and guidance on this?
(I'm familiar with genetic counselling ethics and considerations).
35 years ago, my father (30 years older than me) had EMG / NC studies at the same hospital. Although no formal diagnosis of a specific illness (MS and Parkinsons were initial concern), he was told he had mylelin sheath degradation and some motor nerve function impairment. Due to other acute matters shortly after (mainly stroke), there wasn't much more work done on neuromuscular aspects.
By his 70s he had trouble doing much with his arms above chest height and had a lot of arm weakness and nerve pain issues and atrophy in upper arms.
He had knee replacement surgery last year, the Orthopaedic Hospital are now suggesting his lack of expected recovery would seem to be due to wider neuromuscular weakness aspects and nothing wrong with the new knee implant. He has significant foot drop now too and leg muscle atrophy.
I noticed last week he has first dorsal interossi wasting and fasciculations in one hand, the same as how visible symptoms started with my confirmed limb onset ALS.
Apart from him having leg muscle atrophy, his other symptoms are the same as my own.
Apparently the question of genetic testing was answered:-
"Unfortunately you are 54, the NHS doesn't have a policy of testing over 50, it's not made of money..."
(I'm aware that some senior Professors of neurology are 'uncomfortable' with arbitrary age cut offs for testing around the world).
We often see standard deviation curves of MND onset being diagnosed around age 55 - therefore an age 50 cut-off seems perverse.
I'm also aware that in some hereditary conditions, an offspring could present and be diagnosed years before a parent.
It feels like a gap here, both personally and generally.
Does the MNDA have an opinion and guidance on this?
(I'm familiar with genetic counselling ethics and considerations).
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