Patients ID | Nucleotide change | AA change | Sex | Age (y) at Onset | Age (y) at Exam | F H | Initial symptoms | Clinical features | Proximal involvement | Laterality | Muscle strength | Sensory loss | Tendon reflex | CMTNS | Additional features | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UL | LL | UL | LL | UL | LL | |||||||||||||
Family 1 IV 9 | c.1397A>G | p.D466G | F | 36 | 46 | AD | Numbness in hands | Hands weakness and atrophy, Gait difficulties, Distal dysaesthesia, Foot drop | No | Left | 4-/D | 4/D | P, T, V/D | P, T, V/D | Decreased | Absent | 18 | Hands tremor hyperCKemia (1037 IU/L) |
Family 1 III 5 | M | 30 | 68 | Weakness in hands | Weakness and atrophy in distal limbs, Distal dysaesthesia, Pes cavus, Foot drop | Yes | – | 4/P; 3/D | 3/P; 2/D | P, T, V/D | P, T, V/D | Absent | Absent | 32 | hyperCKemia (958 IU/L) | |||
Family 1 IV 7 | F | 27 | 51 | Weakness in hands | Weakness and atrophy in distal limbs, Distal dysaesthesia, Pes cavus, Foot drop | Yes | Left | 4+/P; 4-/D | 4+/P; 4-/D | P, T, V/D | P, T, V/D | Decreased | Absent | 29 | Hands tremor hyperCKemia (869 IU/L) | |||
Family 1 IV 11 | F | 28 | 38 | Numbness in hands | Weakness and atrophy in distal limbs, Distal dysaesthesia, Foot drop | No | – | 4/D | 4/D | P, T, V/D | P, T, V/D | Decreased | Absent | 25 | Hands tremor hyperCKemia (736 IU/L) | |||
Family 1 V 2 | F | 25 | 27 | Hands tremor | Hands weakness and atrophy, Gait difficulties, Distal dysaesthesia | No | – | 4/D | 4/D | P, T, V/D | P, T, V/D | Decreased | Decreased | 14 | HyperCKemia (1639 IU/L) | |||
Family 1 V 3 | M | 19 | 19 | – | Slight weakness and atrophy in both hands | No | – | 4+/D | 4+/D | P, T/D | P, T/D | Decreased | Decreased | 4 | HyperCKemia (495 IU/L) | |||
Family 2 II 1 | c.260C>T | p.S87L | F | < 1 | 7 | SF | Motor develop delay | Generalized weakness and atrophy, Dysarthria Scoliosis, Claw hand, Flat feet | Yes | – | 3/P; 4/D | 2/P; 2/D | P, T, V/D | P, T, V/D | Absent | Absent | 31 | Cerebellar hypoplasia, mental retardation |
Family 3 II 2 | c.754C>T | p.R252W | F | < 1 | 10 | SF | Motor develop delay | Weakness in distal lower limbs, Steppage gait, Pes cavus, Strephenopodia | No | – | 5/D | 4/D | P, T/D | P, T/D | Decreased | Absent | 10 | – |
Family 3 II 3 | F | 6 | 10 | SF | Foot deformity | Mild gait disturbance, Pes cavus, Strephenopodia | No | – | 5/D | 4+/D | – | – | Decreased | Decreased | 2 | – | ||
Family 4 II 2 | c.1220G>A | p.C407Y | M | 6 | 19 | SF | Motor difficulty | Weakness and atrophy in distal limbs, Distal dysaesthesia, Pes cavus, Hammer toes | No | – | 4/D | 3+/P; 2/D | P, T/D | P, T/D | Decreased | Decreased | 20 | – |