From: LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
Guernsey et al. [6] | Weterman et al. [11] Aerts et al. [23] | Nicolau et al. [9] | Engeholm et al. [12] | Peeters et al. [10] Berciano et al. [21] | Hu et al. [8] | Peddareddigari et al. [51] | Hakonen et al. [7] | Zhao et al. [17] | Peretti et al. [18] | Mortreux et al. [52] | |
---|---|---|---|---|---|---|---|---|---|---|---|
No. of pedigrees | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 8 | 1 |
No. examined patients | 6 | 11 | 10 | 3 | 13 | 5 | 3 | 2 | 4 | 72 | 1 |
No. asymptomatic patients | 1 | 2 | 6 | None | 6 | None | 2 | None | None | 1 | None |
Transmission | AR | AD | AD | AD | AD | AD | AD | AD | AD | AD | AD |
Age onset, proband/secondary cases | 20/adulthood | 32/20–40 | 34/15–50 | 20/20–40 | 17/10–40 | 30/20–43 | 10 (proband) | 50 (proband) | 32 (42–49) | 39 ± 12 (15–70) | 56 |
Presenting symptom | Distal leg weakness | Distal leg weakness | Distal leg weakness | Foot hypoesthesia | Foot deformity | Gait clumsiness | Gait clumsiness | ? | Distal leg weakness | Gait instability | Food drop |
dLL weakness or amyotrophy | + | + | + | + | + | + | + | ? | + | + | + |
dLL hypoesthesia | + | + | + | + | + | + | + | ? | + | + | + |
LL reflexes | Absent | Absent or reduced | Absent (Achilles) | Absent | Preserved or absent | Absent (Achilles) | Present or reduced | ? | Absent or reduced | Usually absent | Absent |
Pes cavus | + | + | + | No | + | No | No | ? | + | Usually absent | + |
dUL weakness or amyotrophy | + | + in 3 cases | No | No | No | No | + | ? | + | No | No |
dUL hypoesthesia | + | + in 7 cases | No | + | Usually mild deficit | No | + | ? | + | Usually present | No |
UL reflexes | Absent | Absent or reduced in 7 cases | Preserved | Preserved | Usually preserved | Preserved | Preserved | ? | Reduced | Preserved | Preserved |
Pain | Episodic cramping | No | Episodic cramps | Cramps | No | No | No | ? | Tingling feet | Cramps, neuropathic pain | No |
Autonomic dysfunction | Presenta | No | Presenta | No | No | No | No | ? | No | Presenta | No |
Other manifestations | Sensory ataxia; tremor | Parkinson in 3 cases | Presentc | Tabetic gait | None | Pelvic swing | None | ? | None | Tremor; restless leg syndrome | No |
Disease severity | Variable to wheelchair bound | Mild | Asymtomatic to | Mild | Mild | Mild to moderate | Moderate | ? | Mild to moderate | Mild to wheelchair bound | Moderate |
Serum CK level | ↑ 1921 | Not done | Not done | ↑480 | Not done | Not done | Not done | ? | Not done | ↑ 3000 | Not done |
Nerve conduction pattern | Axonal | Axonal | Axonal | Axonal (attenuated SNAP) | Axonal | Axonal | Axonal | ? | Axonal | Axonal | Not done |
Electromyographic pattern | Neurogenicb | Not done | Not done | Neurogenic | Neurogenic | Neurogenic | Neurogenic | ? | Not done | Neurogenic | Not done |
Nerve biopsy pattern | Not done | Axonal | Not done | Axonal | Axonald | Not done | Not done | ? | Not done | Axonal | Not done |