Table 1.

Clinical data of NLSD patients

Patient	Sex	Clinical form	Age at onset (muscle involvement) (years)	Age at imaging (years)	Phenotype (muscle weakness)	Severity (at time of imaging)	References
1	M	NLSD-M	40	62	Proximal LL	Mild, ambulant	[13]
2	M	NLSD-M	35	50	Distal UL, LL	Moderate, ambulant	[14]
3	M	NLSD-M	34	50	Diffuse UL, LL, axial	Severe, ambulant with support	[15]
4	M	NLSD-M	35	45	Diffuse UL, LL, axial	Severe, ambulant with support	[15]
5	M	NLSD-M	40	44	Distal LL	Mild, ambulant	[16]
6	F	NLSD-M	18	52	Diffuse UL, LL, axial	Severe, wheelchair-bound	[15]
7	M	NLSD-M	40	62	Proximal UL, LL, axial	Moderate, ambulant	[14]
8	M	NLSD-M	5	15	Asymptomatic	Very mild, ambulant	[17]
9	M	NLSD-M	1	25	Proximal UL, LL	Moderate, ambulant	[18]
10	F	NLSD-M	58	74	Proximal LL	Mild, ambulant	[19]
11	M	NLSD-I	–	15	Asymptomatic	Very mild, ambulant	[3]
12	F	NLSD-I	–	26	Asymptomatic	Very mild, ambulant	[3]

UL upper limbs, LL lower limbs, very mild not symptomatic patients, mild ambulant patients with weakness in max 2 districts (distal or proximal in upper or lower limbs), moderate ambulant patients with weakness in more than 2 districts, severe ambulant with support or wheelchair patients with diffuse muscle weakness