@grok Grok health fam: Braydi's real case—3+ years unexplained neuromuscular weakness (not CMT, but mito dysfunction & nutritional gaps per labs). How can AI unify her genome/EMG/functional data for breakthroughs? Innovators, testbed ideas? Full timeline & Altman tie-in:
https://t.co/b2rgpwv2KV
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EMG notes attached: Female Patient ID: 62016677 Date of Birth: 1/28/2007 Visit Date: 11/12/2024 1:38 PM Age: 17 Years Height: 5 feet 6 inch Physical Exam: weakness and pathogenic ANO5 Summary The motor conduction test had results outside of the specified normal range in all 3 of the tested nerves: In the L Ulnar - ADM study the peak amplitude result was reduced for Wrist stimulation the take off velocity result was reduced for B.Elbow - Wrist segment In the L Peroneal-Fibular - EDB study the peak amplitude result was reduced for Ankle stimulation In the L Tibial - AH study the peak amplitude result was reduced for Ankle stimulation the peak amplitude result was reduced for Knee stimulation the take off velocity result was reduced for Knee - Ankle segment The sensory conduction test was performed on 3 nerve(s). There were no results within the specified normal range. Findings were unremarkable in 1 nerve(s): L Superficial peroneal - (Antidromic). Results outside the specified normal range were found in 2 nerve(s), as follows: In the L Radial - Superficial (Antidromic) study the peak amplitude result was reduced for Forearm stimulation In the L Sural - (Antidromic) study the response was considered absent for Calf stimulation The F wave study was unremarkable in all 1 of the tested nerves: L Ulnar - ADM The needle EMG examination was performed in 3 muscles. It was normal in 1 muscle(s): L. Deltoid. The study was abnormal in 2 muscle(s), with the following distribution: Abnormal spontaneous/insertional activity was found in L. Tibialis anterior, L. Quadriceps. The MUP waveform abnormality was found in L. Quadriceps. Abnormal interference pattern was found in L. Tibialis anterior, L. Quadriceps. Impression: Abnormal study This study shows electrodiagnostic evidence of moderately severe axonal sensorimotor neuropathy with acute on chronic neurogenic changes in the distal > Proximal muscles. This is suggestive of axonal variants of CMT. There were occasional small MUPS seen in deltoid muscle. These may be nascent or reinnervating units. Clicical correlation is recommended The results were discussed with Braydi, mom and dad. We will proceed with more thorough genetic testing as the invitae NM panel was negative other than one pathogenic ANO5 which cannot explain the EDX studies Will get MRI L spine with contrast to look for nerve enhancement or thickening Continue to EKG and echo due to pathogenic ANO5 variant and her carrier status Return in 6 months to MDA clinic Ratna Bhavaraju-Sanka, MD Motor Nerve Conduction Study Nerve / Sites Muscle Latency Ref. Amplitude Ref. Rel Amp Area Duration Segments Distance Lat Diff CV Ref. Temp. ms ms mV mV % mVms ms cm ms m/s m/s °C L Ulnar - ADM Wrist ADM 3.0 <=3.6 4.2 >=5.0 100 14.6 6.5 Wrist - ADM 7 29.9 B.Elbow ADM 8.0 3.4 80.3 15.5 7.8 B.Elbow - Wrist 20.5 5.0 41 >=49 29.9 A.Elbow ADM 10.8 3.2 95.2 14.2 8.0 A.Elbow - B.Elbow 11 2.8 39 31.3 A.Elbow - Wrist 7.8 31.3 L Peroneal-Fibular - EDB Ankle EDB 4.9 <=6.2 0.6 >=2.0 100 2.1 6.7 Ankle - EDB 8 29.9 B. Fib Head EDB 12.6 0.5 75.8 1.1 5.8 B. Fib Head - Ankle 32.2 7.7 42 >=39 30.1 A. Fib Head EDB 15.2 0.4 96.7 1.2 6.3 A. Fib Head - B. Fib Head 10 2.5 40 >=39 30.1 A. Fib Head - Ankle 10.2 30.1 L Tibial - AH Ankle AH 4.3 <=6.0 0.3 >=3.0 100 1.3 8.3 Ankle - AH 8 32 Knee AH 16.2 0.1 >=7.1 26.8 0.7 15.0 Knee - Ankle 39.2 11.9 33 >=39 31.9 F Waves Nerve F Lat Ref. ms ms L Ulnar - ADM 42.2 <=32.0 Sensory Nerve Conduction Study Nerve / Sites Rec. Site Onset Lat Peak Lat Ref. NP Amp Ref. PP Amp Ref. Segments Distance Velocity Ref. Temp. ms ms ms µV µV µV µV cm m/s m/s °C L Radial - Superficial (Antidromic) Forearm Wrist 2.0 2.55 <=2.90 5.2 >=15.0 0.42 >=15.0 Forearm - Wrist 10 49 30.3 L Sural - (Antidromic) Calf Ankle NR NR <=4.20 NR >=5.0 NR >=5.0 Calf - Ankle 14 NR >=43 29.7 EMG Summary Table Spontaneous MUAP Recruitment Muscle IA Fib PSW Fasc H.F. Amp Dur. PPP Pattern L. Tibialis anterior Incr 3+ 3+ None None N N N No Activity L. Quadriceps N 1+ 1+ None
@grok Thanks—spot on! Braydi's genome (no CMT hits, but polygenic mito flags?), EMG (peripheral nerve slowdown), labs (low CoQ10/B12, stalled detox). Anonymized FASTQ/EMG snippets ready if we can sim via AlphaFold or your predictive models? Tailored intervention ideas (e.g., PQQ dosing) could be huge. Doc update: https://t.co/b2rgpwuuVn
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