LemonTree
New member
- Joined
- Jun 21, 2018
- Messages
- 5
- Reason
- Loved one DX
- Diagnosis
- 06/2018
- Country
- RS
- State
- /
- City
- Serbia
My father was diagnosed with an ALS or a very similar condition. He was treated in a third world country, which cannot pride itself with very advanced diagnostics, so I thought that it would be worth to ask for a second opinion online. I'll try to be very concise.
60 year old, male, 80kg (stable, no weight loss)
General:
- severe weakness, short breath, symptoms for 1 year (following a bacterial infection according to the patient)
- mixed descriptions about the progression and starting symptoms/areas
- muscle wasting
- negative Romberg test
- negative Nystagmus test
- drives a car (yesterday for 3 hours), can climb 25 stairs slowly
- condition is deteriorating quite quickly
EMG:
- diffuse lesion of motor neurons, heavy degree in distal region of all limbs, with fasciculations
- no sensory neuron issues
- recruitment pattern, mostly severely reduced
- confirms Lower Motor Neuron disease
Arms:
- suspected muscle wasting of abductor pollicis brevis, weak thumbs, weak pinch grip, good power grip (4 fingers holding)
- able to write well, but about 25% slower than a peer
- can strengthen the fingers/hand (otherwise would suggest MMN)
- Wartenberg sign negative
Legs:
- Mingazzini negative, with gradual sinking
Speech:
- slight disturbances appearing lately
- patient wears denture since recently, blaming slightly increased salivation and speech disturbance on the denture
- weakness to cough
Upper Motor Neuron evidence:
- hyperreflexia (symmetrical) - could not identify any alternative cause
- pseudoclonus feet (suspected by one doctor)
- probably no spasticity
- negative Babinski
- negative clasp-knife response
- pronator drift ok
- no pyramidal deficit
- cannot confirm upper limb extensor weakness (can lift 8kg weight with triceps, 5 times correctly, plus 5 more with effort in continuation)
- cannot confirm lower limb flexor weakness (when legs bent in knees and hip, examiner/me could not strengthen the legs in knees against the will of the patient)
Thyroid hormones: ok, but Hashimoto elevated (can possibly give a hint of autoimmune process within the body elsewhere)
Ultra sound of thyroid gland - mostly ok
CSF test: protein levels are ok, lymphocytes 0.33*10^6/L
Blood test: mostly ok, sedimentation slightly elevated, creatine kinase ok, still waiting for results for GM1 and GM2 anti-ganglioside anti-bodies, vitamins and electrolytes - ok, Lyme negative, (any other suggestion?)
MR, fine with the exception of neck region: dorsal protrusions, fully reducing front liquor space, but no traces of compressive myelopathy. Stenosis of certain foramens.
Question:
Is it possible to confirm the diagnosis of ALS?
ALS:
- Lower Motor Neuron lesions without doubt
- Upper Motor Neuron lesions assumed due to presence of hyperreflexia
- abductor pollicis brevis muscle wasting, likely for other muscles as well
- LMN lesions are described as diffuse (vs. MMN)
- if ALS, then limb onset
Multifocal Motor Neuropathy:
- contradicts hyperreflexia (as listed above), but other UMN tests are negative, while symptoms are evident
- Hyperreflexia could be caused by neck MR findings
- CSF protein content low (less likely for MMN)
- pending results for GM1/2 anti-bodies
- EMG does not describe conduction blocks specifically
Any other mimicking condition suggestion would be helpful?
60 year old, male, 80kg (stable, no weight loss)
General:
- severe weakness, short breath, symptoms for 1 year (following a bacterial infection according to the patient)
- mixed descriptions about the progression and starting symptoms/areas
- muscle wasting
- negative Romberg test
- negative Nystagmus test
- drives a car (yesterday for 3 hours), can climb 25 stairs slowly
- condition is deteriorating quite quickly
EMG:
- diffuse lesion of motor neurons, heavy degree in distal region of all limbs, with fasciculations
- no sensory neuron issues
- recruitment pattern, mostly severely reduced
- confirms Lower Motor Neuron disease
Arms:
- suspected muscle wasting of abductor pollicis brevis, weak thumbs, weak pinch grip, good power grip (4 fingers holding)
- able to write well, but about 25% slower than a peer
- can strengthen the fingers/hand (otherwise would suggest MMN)
- Wartenberg sign negative
Legs:
- Mingazzini negative, with gradual sinking
Speech:
- slight disturbances appearing lately
- patient wears denture since recently, blaming slightly increased salivation and speech disturbance on the denture
- weakness to cough
Upper Motor Neuron evidence:
- hyperreflexia (symmetrical) - could not identify any alternative cause
- pseudoclonus feet (suspected by one doctor)
- probably no spasticity
- negative Babinski
- negative clasp-knife response
- pronator drift ok
- no pyramidal deficit
- cannot confirm upper limb extensor weakness (can lift 8kg weight with triceps, 5 times correctly, plus 5 more with effort in continuation)
- cannot confirm lower limb flexor weakness (when legs bent in knees and hip, examiner/me could not strengthen the legs in knees against the will of the patient)
Thyroid hormones: ok, but Hashimoto elevated (can possibly give a hint of autoimmune process within the body elsewhere)
Ultra sound of thyroid gland - mostly ok
CSF test: protein levels are ok, lymphocytes 0.33*10^6/L
Blood test: mostly ok, sedimentation slightly elevated, creatine kinase ok, still waiting for results for GM1 and GM2 anti-ganglioside anti-bodies, vitamins and electrolytes - ok, Lyme negative, (any other suggestion?)
MR, fine with the exception of neck region: dorsal protrusions, fully reducing front liquor space, but no traces of compressive myelopathy. Stenosis of certain foramens.
Question:
Is it possible to confirm the diagnosis of ALS?
ALS:
- Lower Motor Neuron lesions without doubt
- Upper Motor Neuron lesions assumed due to presence of hyperreflexia
- abductor pollicis brevis muscle wasting, likely for other muscles as well
- LMN lesions are described as diffuse (vs. MMN)
- if ALS, then limb onset
Multifocal Motor Neuropathy:
- contradicts hyperreflexia (as listed above), but other UMN tests are negative, while symptoms are evident
- Hyperreflexia could be caused by neck MR findings
- CSF protein content low (less likely for MMN)
- pending results for GM1/2 anti-bodies
- EMG does not describe conduction blocks specifically
Any other mimicking condition suggestion would be helpful?