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Table 1 Clinical findings of NLSD-M patients

From: Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

References CaM
[Tavian, 2012] [5]
CaAB
[Tavian, 2012] [5]
MA
This report
DLA
[Campagna, 2008] [7]
DLC
[Campagna, 2008] [7]
DE
[Pennisi, 2015] [8]
RR
[Campagna, 2008] [7]
GA
[Pasanisi, 2016] [10]
RMC
This report
BL
[Missaglia, 2015]
BP
[Missaglia, 2015]
BMC
[Missaglia, 2015] [9]
RC
[Tavian, 2012] [5]
CM68
[Massa, 2016] [11]
AZ
[Fiorillo, 2013] [12]
Family I I II III III IV V VI VII VIII VIII VIII IX X XI
Patient I.1 I.2 II.1 III.1 III.2 IV.1 V.1 VI.1 VII.1 VIII.1 VIII.2 VIII.3 IX.1 X.1 XI.1
Sex F M F M M F F M F M M F M M M
Onset of symptoms 25y 40y 47y 34y 35y 58y 18y 1y 40y 40y 35y 58y 64y 45y 5y
First symptom M M M M M M M M M M M HF M M M
Years of disease 44 22 24 16 10 16 34 26 13 20 15 2 15 2 9
Age at last clinical examination 69y 62y 74y 50y 45y 74y 52y 26y 53y 60y 50y 60y 79y 47y 14y
Weakness proximal UL*, LL UL, LL UL > LL UL* LL UL, LL LL UL*, LL UL, LL UL* > LL UL - UL UL - -
distal UL, LL UL, LL UL > LL UL, LL UL, LL - UL LL, UL - - UL, LL - UL LL -
axial + - - + + - + - - + - - + - -
Other clinical features - - - SW - C - TTW SW, CH RI SW - DH, HL - -
Exercise intolerance + + + + + + + + + + + - - + -
Myalgias + + - - - + - + - - + - - + -
Muscle cramps + + - - - - - - - + + - - - -
Spine deformities - - - - S S - - - K S - - - -
Cardiac involvement HCM - HCM LVHT HCM - - HCM - - - - - HCM -
PMK/ICD implantation - - - PMK - - - - - - - - - - -
Hepatic steatosis + - - + + - + - - + + + + + -
Ichthyosis - - - transient - - - - - - - - - - -
Jordans’ anomaly 100% 90% 100% 100% 100% 100% 10% 100% 100% 100% 100% 75% 100% 100% 100%
Age at muscle biopsy 44y n. p 57y 35y n. p 58y and 72y 40y 8y and 21y 49y 39y and 40y 37y n. p 70y and 71y 44 y 14y
Lipidosis in muscle biopsy + n. p + + n. p. - + + + + + n. p + + +
EMG My Mp, My My Mp, My, SA Mp, My Mp, My Mp, N Mp SA Mp n. p n. p N Mp Mp
Max CK value 4X 2.5X 8X 5X 3X 1.5X 5X 25X 3x 5X 6X 6X 2X 3X 6X
  1. M muscular, H Hepatic, UL Upper Limbs, LL Lower Limbs, *asymmetrical weakness, -: not, +: yes, L Lordosis, K kyphosis, S scoliosis, DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy, LVHT left ventricular hypertrabeculation (noncompaction), HF hepatic failure, RI respiratory involvement, TTW tip-toe walking, SW scapular winging, DH drop head, CH calf hypertrophy, HL hearing loss, C cataract, PMK/ICD pacemaker/implantable cardioverter; Jordans’ anomaly: percentage of leukocytes that showed the anomaly; n. p: not performed, Mp: myopathic, My myotonia, SA spontaneous activity, N neuropathic