PMID- 28827485
OWN - NLM
STAT- MEDLINE
DCOM- 20180501
LR  - 20181113
IS  - 1537-1611 (Electronic)
IS  - 1522-0443 (Print)
IS  - 1522-0443 (Linking)
VI  - 19
IP  - 1
DP  - 2017 Sep
TI  - Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.
PG  - 19-26
LID - 10.1097/CND.0000000000000181 [doi]
AB  - OBJECTIVE: To characterize the pattern and extent of muscle weakness and impact 
      on physical functioning in adults with GNEM. METHODS: Strength and function were 
      assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle 
      testing, upper and lower extremity functional capacity tests, and the 
      GNEM-Functional Activity Scale (GNEM-FAS). RESULTS: Profound upper and lower 
      muscle weakness was measured using hand-held dynamometry in a characteristic 
      pattern, previously described. Functional tests and clinician-reported outcomes 
      demonstrated the consequence of muscle weakness on physical functioning. 
      CONCLUSIONS: The characteristic pattern of upper and lower muscle weakness 
      associated with GNEM and the resulting functional limitations can be reliably 
      measured using these clinical outcome assessments of muscle strength and 
      function.
FAU - Argov, Zohar
AU  - Argov Z
AD  - *Department of Neurology, Hadassah University Medical Center, Jerusalem, Israel; 
      daggerPhysical Medicine and Rehabilitation Department, NYU Langone Medical Center-Rusk 
      Institute, New York, NY; double daggerClinical Research Unit, Hadassah University Medical 
      Center, Jerusalem, Israel;  section signWashington University School of Medicine, 
      Neuromuscular Division, St. Louis, MO;  paragraph signUCLA Department of Orthopaedic Surgery, 
      Kameron Gait and Motion Analysis Laboratory, Los Angeles, CA;  ||NYU Division of 
      Neurogenetics, New York, NY; **UCLA Department of Neurology, Los Angeles, CA; and 
      daggerdaggerClinical Outcomes Research and Evaluation, Ultragenyx Pharmaceutical, Inc, 
      Novato, CA.
FAU - Bronstein, Faye
AU  - Bronstein F
FAU - Esposito, Alicia
AU  - Esposito A
FAU - Feinsod-Meiri, Yael
AU  - Feinsod-Meiri Y
FAU - Florence, Julaine M
AU  - Florence JM
FAU - Fowler, Eileen
AU  - Fowler E
FAU - Greenberg, Marcia B
AU  - Greenberg MB
FAU - Malkus, Elizabeth C
AU  - Malkus EC
FAU - Rebibo, Odelia
AU  - Rebibo O
FAU - Siener, Catherine S
AU  - Siener CS
FAU - Caraco, Yoseph
AU  - Caraco Y
FAU - Kolodny, Edwin H
AU  - Kolodny EH
FAU - Lau, Heather A
AU  - Lau HA
FAU - Pestronk, Alan
AU  - Pestronk A
FAU - Shieh, Perry
AU  - Shieh P
FAU - Skrinar, Alison M
AU  - Skrinar AM
FAU - Mayhew, Jill E
AU  - Mayhew JE
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Clin Neuromuscul Dis
JT  - Journal of clinical neuromuscular disease
JID - 100887391
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
RN  - Inclusion body myopathy autosomal recessive
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Female
MH  - Humans
MH  - Lower Extremity/physiopathology
MH  - Male
MH  - Middle Aged
MH  - Motor Activity/genetics
MH  - Muscle Strength/*genetics
MH  - Muscle Weakness/*etiology
MH  - Muscle, Skeletal/*physiopathology
MH  - Myositis, Inclusion Body/complications/*congenital/genetics
MH  - N-Acetylneuraminic Acid/genetics
MH  - Young Adult
PMC - PMC5636058
EDAT- 2017/08/23 06:00
MHDA- 2018/05/02 06:00
PMCR- 2017/10/11
CRDT- 2017/08/23 06:00
PHST- 2017/08/23 06:00 [entrez]
PHST- 2017/08/23 06:00 [pubmed]
PHST- 2018/05/02 06:00 [medline]
PHST- 2017/10/11 00:00 [pmc-release]
AID - 00131402-201709000-00004 [pii]
AID - JCND-D-16-00078 [pii]
AID - 10.1097/CND.0000000000000181 [doi]
PST - ppublish
SO  - J Clin Neuromuscul Dis. 2017 Sep;19(1):19-26. doi: 10.1097/CND.0000000000000181.