Abstract: Limb girdle muscular dystrophies are among a
subset of rare genetic disorders, usually caused by a
monogenetic variant. There are many barriers to arriving
at a genetic diagnosis including patient and physician
knowledge and comfort with new technology, availability of
sponsored testing, geographic availability of testing and
referral to appropriate specialists upon genetic testing.
The foundation has been able to surmount these issues
with the help of sponsored testing, social media,
telemedicine and up to date medical education focused on
the individual’s journey.
PROCESS:
Methods: From July 2020 to July 2021 we were able to
get referrals from a variety of LGMD social media sites,
foundations and national meetings (via ZOOM) for
assistance in undiagnosed LGMD persons from around
the US and Canada who were eligible for sponsored
testing (the majority from underserved areas). In many
cases our educational quarterly newsletter generated
referrals.
Inclusion: Patients’ clinical features had to
include confirmed neuromuscular signs: Gower’s sign, or
some degree of proximal weakness which was true in all
cases. Neuropathic features were included for
completeness in a differential diagnosis and further
genetic testing where needed. Suspected mitochondrial
disorders could not be tested due to lab limitations but
were addressed with individuals as they arose.
The process: In conjunction with their local medical team,
DNA kits for neuromuscular and in some cases
neuropathic panels were mailed to persons and returned
to a central lab.
Results: A total of 134 patients received genetic panel
testing, 89 females and 45 males and the average age
was 45 years (ages 4- 80). Ten patients did not return
tests. Of the 124 who did 38 (28%) had a positive
pathogenic diagnosis not known before . Fifty five (44%)
had 1-8 variants of uncertain significance but the lab felt
these variants were suspicious enough for additional
family testing which was followed up upon as
circumstances allowed for segregation analysis. Twenty
nine patients (23%) had variants of uncertain significance
for which the lab declined any further family testing. Two
patients had entirely negative results. The average
resulted test had 3 variants. Genetic counselling was
available in all cases.
Conclusion: with access to sponsored testing,
social media and telemedicine capabilities, patients
suspected of LGMD can obtain timely and accurate diagnoses.