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conferenceseries
.com
Volume 8
Journal of Novel Physiotherapies
ISSN: 2165-7025
Novel Physiotherapies 2018
March 19-20,, 2018
March 19-20, 2018 | Berlin, Germany
5
th
International Conference and Expo on
Novel Physio
therapies
GNEmyopathy: Recognizing key features to optimize physical therapy treatment in a rare myopathy
Jenna Desimone
and
Stephen Fischer
RUSK Rehabilitation - NYU Langone Health, USA
Background & Purpose:
GNE myopathy, a rare autosomal recessive adult-onset disorder with progressive muscle atrophy
and weakness, is due to a missing GNE/MNK enzyme, causing a sialic acid deficiency. Progressive distal limb weakness with
a unique quadriceps sparring presentation is common. Investigational drug trials exist, but the disease currently has no cure.
GNE myopathy has often been misdiagnosed, due to large exclusions in the population when histopathologic diagnostic
criteria required multiple findings on muscle biopsy. Today the diagnosis relies on clinical presentation, including muscle
imaging and is confirmed by genetic studies. GNE myopathy presents with unique patterns of muscle dominance-quadriceps
vs. hamstrings, abductors vs. adductors, hip extensors vs. hip flexors, plantar flexors vs. dorsiflexors, biceps vs. triceps-with
subjective reports of tripping, difficulty in managing steps and rising from chairs. The authors have partook in data collection
for a GNE myopathy IRB approved drug trial for four years, and are now seeing this population in the clinic. There is no
literature available on GNE myopathy and physical therapy at this time. This report will identify the clinical characteristics
of GNE myopathy and highlight the role of physical therapy (PT) in improving physical function, decreasing falls risk, and
improving quality of life in this patient (pt) population.
Case Description:
Pt is a 42 year old female, noted a six year progressive decline in distal BLE weakness with increased falls.
She was referred to PT for strengthening, balance and gait training and to transition from soft over the counter ankle foot
othosis (AFOs) to custom AFOs. She was not enrolled in a drug trial. Pt presented on evaluation with impaired strength,
balance, endurance, and increased fear of falls. Pt received 30-60 min individual PT sessions 1-2 times per week for 32 sessions.
Treatment emphasized strengthening dominant muscle groups to optimize function, balance training, and progressing high
level mobility with appropriate AFOs.
Outcomes:
First and final outcome measures: 5 time sit to stand was 9 sec to 6 sec, timed up and go 7.8 sec to 6.6 sec, gait speed
(GS) self-selected 1.21 m/s to 1.49 m/s, GS fast 1.56 m/s to 1.79 m/s, mini-bestest 20/28 to 27/28, and Hi-MAT 27/54 to 29/54.
Fall rate from x1 weekly to x1 in 3 months.
Discussion:
Knowledge of GNE myopathy presentation and prognosis enabled PT to develop targeted strengthening programs
to improve functional strength, decrease risk of falls, and improve quality of life. Focused strengthening of dominant muscles
in moderate intensity to prevent fatigue is essential in a population with difficulty generating new muscle fibers. Education on
appropriate bracing to decrease falls risk and improve high level mobility added to pt quality of life. More research is warranted
as treatment options for patients with GNE myopathy progress.
Recent Publications
1. Brady S, Squier W and Hilton-Jones D (2013) Clinical assessment determines the diagnosis of inclusion body myositis
independently of pathological features. Journal of Neurology, Neurosurgery and Psychiatry 84(11):1240-1246.
2. Haghigi A, Nafissi S, Qurashi A et al. (2016) Genetics of GNE myopathy in the non-Jewish Persian population.
European Journal of Human Genetics 24(2):243-51.
3. Kazamel M 1, Sorenson E J and Milone M (2016) Clinical and Electrophysiological Findings in Hereditary Inclusion
Body Myopathy Compared With Sporadic Inclusion Body Myositis. Journal of Clinical Neuromuscular Disease
17(4):190-6.
4. Monies D, Alhindi HN, Almuhaizea MA et al. (2016) A first-line diagnostic assay for limb-girdle muscular dystrophy
and other myopathies. Human Genomics 10(1):32.
5. Urtizberea J A and Behin A (2105) GNE Myopathy. Med Sci (Paris) doi:10.1051/medsci/201531s306.
Jenna Desimone et al., J Nov Physiother 2018, Volume 8
DOI: 10.4172/2165-7025-C1-024