Table 1

Updated table of all genes and loci identified in distal hereditary motor neuropathies (dHMN) based on the original classification by Harding3

Disease	Inheritance	Phenotype	Gene	Locus
dHMN type I	AD	Juvenile onset with distal wasting and weakness	HSPB1	–
			HSPB8	–
			GARS	–
			DYNC1H1	–
dHMN type II	AD	Adult onset with distal wasting and weakness	HSPB1	–
			HSPB8	–
			BSCL2
			HSPB3 (probable)
dHMN type III	AR	Slowly progressive wasting and weakness	Unknown	11q13
dHMN type IV	AR	Slowly progressive wasting and weakness with diaphragmatic paralysis	Unknown	11q13
dHMN type V	AD	Upper-limb predominance	GARS	–
dHMN type V	AD	Upper-limb predominance	BSCL2	–
dHMN type VI	AR	Spinal muscular atrophy with respiratory distress type 1	IGHMBP2	–
dHMN type VII	AD	Adult onset with vocal-cord paralysis	DCTN1	–
			TRPV4	–
			Unknown	2q14
X-linked dHMN	X-linked	Distal-onset wasting and weakness	ATP7A	–
dHMN and pyramidal features	AD	DHMN and pyramidal signs	SETX^*	–
			BSCL2	–
			Unknown	4q34–q35
			Unknown	7q34–q36
dHMN from the Jerash region of Jordan	AR	DHMN and pyramidal signs originating in the Jerash region of Jordan	Unknown	9p21.1–p12
Congenital distal spinal muscular atrophy	AD	Distal weakness at birth and arthrogryphosis	TRPV4	–

↵* dHMN and pyramidal features due to senataxin (SETX) mutations is also referred to as amyotrophic lateral sclerosis type 4.
AD, autosomal dominant; AR, autosomal recessive; ATP7A, copper-transporting ATPase 1; BSCL2, Berardinelli–Seip congenital lipodystrophy type 2; DCTN1, P150 subunit of dynactin; DYNC1H1, cytoplasmic dynein heavy chain 1; GARS, glycyl-tRNA synthetase; HSPB1, heat-shock protein B1; HSPB3, heat-shock protein B3; HSPB8, heat-shock protein B8; IGHMBP2, immunoglobulin μ binding protein 2; TRPV4, transient receptor vallanoid 4 gene.