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Volume 08
Journal of Novel Physiotherapies
Rehabilitation Medicine 2018
May 18-19, 2018
May 18-19, 2018 Osaka, Japan
7
th
World Congress on
Physical Medicine and Rehabilitation
GNE myopathy: Recognizing key features to optimize physical therapy treatment in a rare myopathy
Jenna DeSimone and Stephen Fischer
RUSK Rehabilitation, 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
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 managing steps and rising from chairs. The authors have partook in data collection for
a GNE myopathy IRB approved drug trial for 4-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:
Patient is a 42-year old-female, noted a 6 year progressive decline in distal BLE weakness with increased
falls. She was referred to PT for strengthening, balance and gait training and also transition from soft over the counter 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.
Result:
At onset of care, pt was evaluated per standard outcome measures to assess for baseline function and falls risk. Her
plan of care was established with goals of strengthening dominant muscle groups to optimize function, balance training to
decreased falls risk and improve confidence with mobility and progressing high level mobility, with recommendations to
appropriate AFOs. Pt demonstrated the below improvements in standard outcome measures from her start to end of care: 5
Time Sit to Stand: 9 seconds to 6 seconds, Timed Up and Go: 7.8 seconds to 6.6 seconds, 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 assessment: 27/54 to 29/54. Pt improved
her fall rate from in 3 months.
Conclusion & 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 pts with GNE myopathy progress.
Biography
Jenna DeSimone is a Specialist in Neurological Recovery and is a board certified Neurological Clinical Specialist, and a Senior Staff Physical Therapist at NYU
Langone Health. She is a graduate of Villanova University (BS) and received her Doctorate in Physical Therapy from Sacred Heart University in 2012 and joined
NYU Langone Health the same year. After spending three years rotating through inpatient care, acute rehab, and outpatient care, she began her specialization
in community-based rehab in the neurological spectrum of care. She has since risen to the senior level as a non-rotating member of the Neurological Outpatient
Department and is a certified clinical instructor, serving as a Lead Instructor for physical therapy students. Her prior involvement in research includes work with
Ultragenyx Pharmaceuticals on Phase II-IV research programs for GNE myopathy and participation in IRB approved research on brain injury, aphasia and physical
therapy.
Jenna.DeSimone@nyumc.orgJenna DeSimone
et.al., J Nov Physiother 2018, Volume 8
DOI: 10.4172/2165-7025-C2-026