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Telehealth Referral Leads to Diagnosis and Effective Treatment of Rare Neuropathy: Case Study

A 68-year-old man from Hawaii with acetylcholine receptor (AChR) antibody–positive myasthenia gravis and poorly controlled type 2 diabetes complicated by neuropathy had been receiving intravenous immunoglobulin (IVIg) and taking pyridostigmine for two years when he presented to his local neurologist with progressive weakness, muscle wasting and worsening balance. To evaluate for possible neuropathy related to his diabetes, his neurologist completed an electromyogram (EMG) and nerve conduction study (NCS) which showed absent sensory amplitudes in the patient’s upper and lower extremities and active denervation potentials in his arm and leg muscles.

The patient had a telehealth visit with UCSF neurologist Mark Terrelonge Jr., MD, MPH, for a second opinion on whether his progressive symptoms were due to worsening myasthenia gravis, worsening diabetic neuropathy or amyotrophic lateral sclerosis (ALS), given the extent of motor changes on his EMG. His virtual exam showed antigravity strength in the upper extremity but definite weakness in the lower extremities. He was unable to walk on his heels or stand on his toes. However, he was still able to feel self-induced pinpricks in his hands.

While these results suggested a progressive active neuropathy affecting the patient’s movement, his limited sensory complaints were puzzling, given the NCS results. “His diabetes may have interfered with accurate test interpretation,” Terrelonge said. A lumbar puncture subsequently performed at his local clinic showed increased cerebrospinal fluid protein, raising concern for inflammatory neuropathy.

In-person exam and antibody test inform diagnosis

The patient then came to UCSF for a visit with Terrelonge. The in-person exam confirmed numbness in his bilateral shins, limited numbness in hands to pinprick and vibration modalities, and asymmetrically decreased or absent reflexes in his upper and lower extremities. The UCSF team repeated the EMG and NCS with proximal segments included to assess for regions of possible demyelination; they found signs of conduction block in several nerves, increasing concern for chronic inflammatory demyelinating polyneuropathy (CIDP).

Given that the patient was having progressive symptoms while on IVIg, the team tested for specific antibodies associated with CIDP or nodo-paranodopathies. The patient was positive for anti-contactin-1 (CNTN1) antibodies, which correlate with a nodo-paranodopathy belonging to the immunoglobulin G subclass 4 (IgG4). He was transitioned from IVIg to rituximab which, in addition to helping treat neuropathy, can be effective for some patients with AChR antibody–positive myasthenia gravis. Three months after rituximab initiation, his weakness diminished and his balance improved.

“The therapy reversed a lot of the patient’s disease,” Terrelonge said. “His treatment was possible due to the coordinated care of his local neurologist, telehealth and in-person visits with me, and access to specialized testing at UCSF. The patient continues to follow up with his neurologist in Hawaii going forward.”

Multidisciplinary treatment model improves quality of life

Named a Certified Treatment Center of Excellence by the ALS Association, the UCSF ALS & Neurodegenerative Disease Center provides patients with comprehensive treatment from a team that includes neurologists; pulmonologists; nurses; social workers; dietitians; genetic counselors; communication specialists; and occupational, physical, speech and respiratory therapists. 

“We’ve demonstrated success with our multidisciplinary treatment model for patients with ALS. It improves quality of life better than any currently available treatment regimen,” said UCSF neurologist Catherine Lomen-Hoerth, MD, PhD, the center’s director. “We’re applying this model to care for patients with other neuromuscular conditions.”

The center has several satellite clinics and participates in clinical trials, including the HEALEY ALS Platform Trial.

“Through telehealth and our satellite clinics and by collaborating with regional and out-of-state physicians, we’re reaching more patients,” Lomen-Hoerth said. “We’re committed to making care accessible to patients in underserved communities.”

Neurology and neurosurgery research and treatment take place within the UCSF Weill Institute for Neurosciences.

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UCSF ALS & Neurodegenerative Disease Center

Phone:(415) 353-2122 | Fax: (415) 353-2524

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