Actino
New member
- Joined
- Nov 7, 2023
- Messages
- 3
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- UK
Hello everybody, around mid-april, my mother began developing some neurological symptoms, which we initially chalked up to age plus physical stress from work. She worked two jobs, one of which was at a care home. After a referral to a neurologist and an EMG, the neurologist highly suspects Motor Neurone Disease. On October 31st, she received the following letter (edited to remove personal details) and I was hoping anyone with experience would be kind enough to look it over. Ever since receiving the letter I've been going down a rabbit hole of MND/ALS which I know is not good for my mental health whatsoever, but I want to be absolutely thorough about what we're dealing with. I should also note at the time of this post, she is currently admitted to a neurology ward to receive a Lumbar Puncture. The MRI also mentioned in the letter has been performed, which has come back normal for a woman her age.
"You developed a limp in your right leg in April which has progressed to a significant right foot drop. In recent weeks you have noticed weakness in the left lower limb and also in your trunk. You are worried that you might fall over in the shower. As result of the weakness you now need support with personal care.
You have noticed muscle twitches in multiple locations, including the limbs, trunk and face. You also get a lot of muscle cramps and throughout the body including in the trunk.
A recurrent problem since this began is low back pain which at times has caused your back to go into spasm. At one time you had to walk with your spine flexed forwards in order to be comfortable. Pain, particularly in the lower spine radiating into the legs on walking, remains a significant problem for you.
You have also developed a tremor in the upper limbs which feels as though it is present throughout the body. You have developed shortness of breath with minor exertion. You also report intermittent numbness and pins-and-needles in the lower limbs
I note that you have a recent diagnosis of COPD You also have peripheral vascular disease which was treated with what sound like illac artery stents some years ago.
Your current medications include inhalers, amlodipine, clopidogrel, quinine and HRT
Your 80 year old mother is neurologically well. You have not seen your father for 7 years but as far as you are aware he has no neurological problems. You have 2 brothers and 2 children, none of whom have any significant neurological illness.
You are a care worker but have not been able to work for several months because of the aforementioned symptoms. You stopped smoking 3 years ago. You do not consume alcohol and were never a heavy drinker.
On examination I saw fasciculations in the mentalis muscles. Cranial nerves were otherwise normal. There was a tremor in the head and in the outstretched upper limbs. worse on the left. I did not look extensively for wasting or fasciculations today although these have been documented elsewhere. Tone was reduced in the distal right lower limb but normal elsewhere. There was mild weakness of right wrist flexion, bilateral FDIO and ADM and left abductor pollicis brevis. There was moderate weakness of left ankle dorsiflexion and big toe extension and right ankle plantarflexion and severe weakness of right ankle dorsiflexion and big toe extension. I thought that the right supinator and biceps reflexes were slightly brisker than the left. Reflexes in the lower limbs were within the normal range and symmetrical. Plantars were flexor. Pinprick, temperature and vibration sense in the limbs were normal.
You have had a lumbar spine MRI which shows some minor wear and tear changes which can't account for your symptoms. My colleague booked an MRI of your brain and spinal cord which is happening in 2 days' time. You have had an EMG which shows widespread acute and chronic denervation and points to a motor neuron problem. You have had a range of blood tests some which are awaited but of note your creatine kinase is slightly elevated at 249
I explained that the most likely diagnosis, unfortunately, is motor neuron disease. However, the degree of pain is a little unusual and you have no unequivocal upper motor neuron signs. I would like to perform a lumbar puncture so we can rule out an inflammatory or infiltrative process in your spinal fluid. You will need to stop your clopidogrel 7 days prior to the lumbar puncture. We also need lung function tests as I am concerned about your shortness of breath."
"You developed a limp in your right leg in April which has progressed to a significant right foot drop. In recent weeks you have noticed weakness in the left lower limb and also in your trunk. You are worried that you might fall over in the shower. As result of the weakness you now need support with personal care.
You have noticed muscle twitches in multiple locations, including the limbs, trunk and face. You also get a lot of muscle cramps and throughout the body including in the trunk.
A recurrent problem since this began is low back pain which at times has caused your back to go into spasm. At one time you had to walk with your spine flexed forwards in order to be comfortable. Pain, particularly in the lower spine radiating into the legs on walking, remains a significant problem for you.
You have also developed a tremor in the upper limbs which feels as though it is present throughout the body. You have developed shortness of breath with minor exertion. You also report intermittent numbness and pins-and-needles in the lower limbs
I note that you have a recent diagnosis of COPD You also have peripheral vascular disease which was treated with what sound like illac artery stents some years ago.
Your current medications include inhalers, amlodipine, clopidogrel, quinine and HRT
Your 80 year old mother is neurologically well. You have not seen your father for 7 years but as far as you are aware he has no neurological problems. You have 2 brothers and 2 children, none of whom have any significant neurological illness.
You are a care worker but have not been able to work for several months because of the aforementioned symptoms. You stopped smoking 3 years ago. You do not consume alcohol and were never a heavy drinker.
On examination I saw fasciculations in the mentalis muscles. Cranial nerves were otherwise normal. There was a tremor in the head and in the outstretched upper limbs. worse on the left. I did not look extensively for wasting or fasciculations today although these have been documented elsewhere. Tone was reduced in the distal right lower limb but normal elsewhere. There was mild weakness of right wrist flexion, bilateral FDIO and ADM and left abductor pollicis brevis. There was moderate weakness of left ankle dorsiflexion and big toe extension and right ankle plantarflexion and severe weakness of right ankle dorsiflexion and big toe extension. I thought that the right supinator and biceps reflexes were slightly brisker than the left. Reflexes in the lower limbs were within the normal range and symmetrical. Plantars were flexor. Pinprick, temperature and vibration sense in the limbs were normal.
You have had a lumbar spine MRI which shows some minor wear and tear changes which can't account for your symptoms. My colleague booked an MRI of your brain and spinal cord which is happening in 2 days' time. You have had an EMG which shows widespread acute and chronic denervation and points to a motor neuron problem. You have had a range of blood tests some which are awaited but of note your creatine kinase is slightly elevated at 249
I explained that the most likely diagnosis, unfortunately, is motor neuron disease. However, the degree of pain is a little unusual and you have no unequivocal upper motor neuron signs. I would like to perform a lumbar puncture so we can rule out an inflammatory or infiltrative process in your spinal fluid. You will need to stop your clopidogrel 7 days prior to the lumbar puncture. We also need lung function tests as I am concerned about your shortness of breath."
