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Abstract Details

Diagnostic Challenges of Congenital Myopathies in the Adult Neuromuscular Clinic
Neuromuscular and Clinical Neurophysiology (EMG)
P5 - Poster Session 5 (5:30 PM-6:30 PM)
12-022

To characterize the clinical, pathological and genetic spectrum of undiagnosed congenital myopathies (CM) presenting in the adult neuromuscular clinic.

CM are a group of inherited myopathies classically characterized by early onset hypotonia or weakness and distinct myopathological features. Increasing use of genetic testing however has identified a growing number of patients who do not exhibit this phenotype.
We conducted a retrospective review of patients diagnosed with CM in adulthood in our neuromuscular clinic between 2008 and 2018. Patients with an established diagnosis of CM before age 18 were excluded.
A total of 43 patients from 35 unrelated families were identified. The causative genes were RYR1 (13 families), ACTA1 (4), SELENON (4), MYH7 (3), MYH2, TPM2, DNM2 and CACNA1S (1 family each). Seven families did not undergo genetic testing but had a specific pathologic diagnosis. Median age at reported symptom onset was 32 years (range: infancy-72 years), although 21/29 patients retrospectively reported athletic performance below their peers since childhood. Median age at diagnosis was 49 years (range 19-84). Twenty-eight patients reported a progressive rather than static course. The most common patterns of weakness were limb-girdle (19 patients) and distal (9). Cardiomyopathy and respiratory involvement were present in 11 and 18 patients, respectively. Thirty-two patients underwent muscle biopsy; 18 demonstrated histological abnormalities typical of a congenital myopathy, 13 showed non-specific myopathic features and one had normal findings. Prior to their diagnosis of CM, 22 patients had received other diagnoses, including non-neurological disorders (8), other inherited myopathies (5), acquired myopathies (4), neurogenic processes (4) and myasthenia gravis (1).
CM with reported symptom onset in adulthood represent a diagnostic challenge and often lack the clinical and myopathological features classically associated with CM. Our findings underscore the need for a revision of the terminology and current classification of these disorders.
Authors/Disclosures
Stefan Nicolau, MD (Nationwide Children's Hospital)
PRESENTER 		The institution of Dr. Nicolau has received research support from Muscular Dystrophy association. The institution of Dr. Nicolau has received research support from American Brain Foundation. The institution of Dr. Nicolau has received research support from American Neuromuscular Foundation.
Teerin Liewluck, MD, FAAN (Department of Neurology, Mayo Clinic) Dr. Liewluck has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta Therapeutics. Dr. Liewluck has received publishing royalties from a publication relating to health care.
Jennifer A. Tracy, MD (Mayo Clinic) Dr. Tracy has nothing to disclose.
Ruple S. Laughlin, MD, FAAN (Mayo Clinic Rochester) Dr. Laughlin has nothing to disclose.
Margherita Milone, MD, FAAN (Mayo Clinic) Dr. Milone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cartesian Therapeutics. Dr. Milone has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology Genetics, AAN. The institution of Dr. Milone has received research support from Mayo Clinic, CCaTS-CBD. The institution of Dr. Milone has received research support from Mayo Clinic, SGP Award. The institution of Dr. Milone has received research support from MDA for Care Center grant. The institution of Dr. Milone has received research support from Regenerative medicine Minnesota.