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Likely ALS diagnosis, extensive analysis

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    Likely ALS diagnosis, extensive analysis

    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)

    - 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

    - 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

    - 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

    - Mingazzini negative, with gradual sinking

    - 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.

    EMG Report:
    EMG diagnostics shows existence of diffused neurogenic lesion of severe degree in distal muscles of both upper and lower limbs with moderate innervation, mostly fasciculations. Sensory Velocity Conduction reduced in lower limbs, with lower amplitudes of EP. In lower limbs, two distal latencies are extended with with partial reduction in Motor Velocity Conduction and reduction in amplitudes of motor EP with extensions of distal latencies for both n. medianus.
    EMG confirms lesions of proximal lower motor neurons as part of MND, with presence of sensorimotor polyneuropathy.

    Is it possible to confirm the diagnosis of 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?

    Hi N-M and welcome to the forum;

    I can't comment a lot on the technical stuff and it would be better for me to talk/explain in laymans terms when and what he noticed first. How things have progressed from then on.

    I reckon that others would know about the report.

    Best wishes, Terry
    TB once said that "The forum is still the best source for friendship and information."

    It will only remain so if new people post and keep us updated on things that work or don't work and tips.

    Please post on old threads that are of use so that others see them and feel free to start new subjects and threads.


      I don't live with my father and cannot be much more descriptive than this concerning the symptoms. They mostly fall within ALS narrative. For instance, when looking at ALS Functional Rating Scale, he scores between first and second answer (weakest symptoms) for almost all questions, and is not considered likely for a third (level) answer for any of the questions. Having said that, he does have severe MND according to EMG, muscle wasting, and no sensory neuron issues which could point to other conditions.
      The scope is around predominately LMN MND diseases, with a potential UMN.

      Originally posted by Terry View Post
      I can't comment a lot on the technical stuff and it would be better for me to talk/explain in laymans terms when and what he noticed first. How things have progressed from then on.


        Hi, he needs to be evaluated by a specialist in neuromuscular diseases.
        ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
        Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.


          What kind of lifestyle did your father lead before his health problems? I wish him a speedy recovery.


            Hi, although your uncles symptoms were similar to ALS .With MND muscles don’t get stronger as it’s a progressive illness .
            I do exercises with my legs and arms to help with spasticity but no amount of exercise stops the atrophy to my muscles and progressive fatigue.Their is no recovery process either.

            Glad your uncle is doing well.
            Best wishes


              Mary C Unfortunately that post was spam Mary. xx
              ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
              Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.


                Some people are really sick 🤮
                Bulbar started Jan 2020. Mute and 100% tube fed but mobile and undefeated. Stay Strong 🤗😘🤗😁xx