. 2022 Apr 5;27(2):100–112. doi: 10.1111/jns.12489

TABLE 2.

Main clinical and genetic characteristics of studies included in this review

Studies	Age of onset	Starting symptoms	Major neurological signs	Type of CMT	Genes	Variants	Methods of diagnosis
Aiyesimoju, 1984 ³⁰	NR	NR	NR	NA	NA	NA	NP
LeGuern, 1996 ⁶⁷	NR	NR	NR	ARCMT1	NI	NI	Homozygosity mapping
Kessali, 1997 ⁴⁴	First decade	Foot and spine deformities	Distal muscle weakness in UL and LL, areflexia, foot deformities, kyphoscoliosis, hypoacusis and facial weakness	ARCMT	NI	NI	Linkage analysis
Meggouh, 1998 ⁴³	Second decade	Distal LL muscle weakness and wasting	Distal muscle weakness predominantly in LL, tendon areflexia, pes cavus and kyphoscoliosis	CMTX	Cx32/GJB1	del499G	Sanger sequencing
Bouhouche, 1999 ³⁹	Second decade	NR	Muscles weakness and wasting of the distal limbs, and areflexia predominantly in the lower limbs. Involvement of the proximal muscles in few patients. Pes cavus and severe kyphoscoliosis.	ARCMT2	NI	NI	Linkage analysis, physical mapping and direct sequencing
Othmane, 1999 ¹⁶	First/second decade	NR	Atrophy and weakness of intrinsic foot muscles, peronei, and anterior tibial muscles. Pes cavus and hammer toes.	CMT4B	NI	NI	Homozygosity mapping and linkage analysis
Barhoumi, 2001 ³⁸	First decade	Walking difficulties	Severe distal muscle wasting, and atrophy of legs and of small muscles of hands. Steppage gait with bilateral foot drop, brisk tendon reflexes in UL and knee, and absent ankle reflexes. Distal sensory loss in LL including sense of touch, pain, proprioception and pallesthesia.	ARCMT2	NI	NI	Homozygosity mapping and linkage analysis
Baxter, 2001 ³³	First decade	Muscle weakness	Weakness and atrophy of the feet and hands (clawhands). Wheelchair‐dependent and/or develop kyphosis. Mild sensory loss, proprioception and vibration senses.	CMT4	GDAP1	c.G92A; p.W31X	Direct sequencing
Baxter, 2001 ³³	First decade	Muscle weakness		CMT4	GDAP1	c.G482A; p.R161H	Direct sequencing
Sandre‐Giovannoli, 2002 ⁶⁸	First decade	Muscle weakness	NR	ARCMT2	LMNA	c.C892T, p.R298C	Direct sequencing
Kakar, 2003 ³⁵	Fifth decade	Bilateral numbness and tingling in feet	Severe atrophy and weakness of the distal arm and legs. Tendon areflexic, with flexor plantar responses. There was sensory loss of all modalities in a glove and stocking distribution. Gait was abnormal with bilateral foot drop. He had pes cavus.	CMT1B	MPZ	c.C234G, p.S78W	Direct sequencing
Azzedine, 2003 ³¹	First/second decade	Muscle weakness	Motor and sensory loss, areflexia, foot deformities and scoliosis	CMT4B2	MTMR13	c.C2875T, p.Gln956Stop ^a	Sanger sequencing
Azzedine, 2003 ³¹	First/second decade	Muscle weakness		CMT4B2	MTMR13	c.C3586T; p.Arg1196Stop ^a	Sanger sequencing
Chaouch, 2003 ⁴⁵	First/second/third decade	Muscle weakness	Weakness and amyotrophy of proximal muscles of pelvic girdle. Variable distal sensory disturbances with a glove and stock distribution.	ARCMT2	LMNA	c.C892T; p.R298C	Sanger sequencing
Birouk, 2003 ²³	First decade	Foot deformities and muscle weakness	Distal muscle weakness and wasting of legs, predominantly in peroneal muscles, with severe foot deformities of the pes equinovarus type. Total areflexia, and loss of proprioception in the lower limbs.	ARCMT2	GDAP1	S194X	Sanger sequencing
Tazir, 2004 ⁴²	First/second/third decade	Difficulty to running and walking	Distal and proximal muscle weakness, sensory loss, amyotrophy and areflexia. Foot deformities with pes cavus, scoliosis.	ARCMT2	LMNA	c.C892T, p.R298C	Sanger sequencing
Azzedine, 2006 ⁶⁹	First decade	Scoliosis and kyphoscoliosis	Scoliosis or kyphoscoliosis and foot deformities	CMT4C	SH3TC2	del GCTGCTCGGAG; A74_77 indel fsX128 ^a	Direct sequencing
						IVS10‐1G/A ^a
						c. 2190delC; p.E731fsX750 ^a
						c.C 2710T; p.R904X ^a
						c. C2860T; p.R954X ^a
Bösenberg, 2006 ⁴⁸	First/second decade	Running difficulty and peroneal spasm	Wasting of the thenar, eminence and the interossei of both hands and feet. Deep tendon reflexes were absent, slight sensory loss in his hands and feet. Feet deformities.	CMT1A	PMP22	PMP22 duplication	NR
Onwuewe, 2007 ⁵⁰	Second decade	Paraesthesia	Distal quadriparesis, spontaneous fasciculations, hyporeflexia and loss of proprioception	CMT1	NA	NA	NP
Bouhouche, 2007 ⁴⁰	First decade	Hypotonia at birth and walking delay	Predominantly distal motor deficit and atrophy of both UL and LL. Atrophy and weakness of proximal muscles, distal sensory impairment involving particularly proprioception in the LL.	CMT4A	GDAP1	c.C233T; p. P78L	Linkage analysis and direct sequencing
Delague, 2007 ⁷⁰	First decade	Delayed walking	Muscle weakness and amyotrophy in the distal extremities, marked feet abnormalities (pes cavus), absent tendon reflexes in the four limbs, ataxia, and a waddling gait	CMT4H	FGD4/FRABIN	c.T893C, p.Met298Thr	Direct sequencing
Bouhouche, 2007 ⁴⁰	First decade	hypotonia at birth and delayed first motor acquisition	Distal muscle weakness, foot deformities and claw fingers, areflexia, sensory loss, wheelchair bound	CMT2B1	LMNA	c.892C>T; p.Arg298Cys ^a	Microsatellite markers and direct sequencing
Bouhouche, 2007 ⁴⁰	First decade	hypotonia at birth and delayed first motor acquisition		CMT4A	GDAP1	c.C581G; p.S194X ^a	Microsatellite markers and direct sequencing
Hamadouche, 2008 ⁴⁹	First/second/third decade	NR	NR	ARCMT2	LMNA	c.892C>T; p.Arg298Cys	Sanger sequencing
Nouioua, 2011 ³⁷	First/second decade	Spine deformities and gait instability	Predominantly motor neuropathy with a steppage gait and distal limb weakness and wasting, claw hands and sensory loss, stridor and breathing difficulties	CMT4B1	MTMR2	c.331dupA; p.Arg111LysfsX24 ^a	Sanger sequencing
Nouioua, 2011 ³⁷	First/second decade	Spine deformities and gait instability		CMT4F	PRX	c.1090C>T; p.Arg364X ^a	Sanger sequencing
Baudot, 2012 ³²	NR	NR	NR	CMT4H	FGD4/FRABIN	c.1325G>A; p.Arg442His	Sanger Sequencing
Kandil, 2012 ²⁹	NR	NR	NR	NR	NA	NA	NP
Boubaker, 2013 ³⁴	First decade	Gait disturbance	Amyotrophy and muscle weakness in the UL and LL. Muscle tone was low and deep tendon reflexes were absent. Walking on her tip toes, pes cavus and mild scoliosis.	CMT4H	FGD4/FRABIN	c.514_515insG; p.Ala172Glyfs*27	Sanger sequencing
Mathis, 2014 ³⁶	First decade	Walking difficulties	Weak deep tendon reflexes in all four limbs and kyphoscoliosis	CMT1A	PMP22	PMP22 duplication	MLPA and direct sequencing
Yalcouyé, 2019 ⁷	Second decade	UL muscle weakness	Distal muscle and sensory loss, muscle weakness and steppage gait	CMT2D	GARS	c.794C>A; Ser265Tyr	NGS (CMT gene panel)
Manyeruke, 2020 ⁴⁶	First decade	NR	NR	CMT1A	PMP22	PMP22 duplication	NR

Abbreviations: LL, lower limbers; MLPA, Multiplex Ligation Probe Amplification; NA, not applicable; NGS, next generation sequencing; NI, not identified; NP, not performed; NR, not reported; UL, upper limbs.

^{^a}

Different families.