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

Table 1 Clinical findings of NLSD-M 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

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

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