| . | . | . |
|---|---|---|
| Patient 1 | Basic information | Left-handed Caucasion male, 55 yr old (on diagnosis) |
| Major problems | Progressive, symmetric, length dependent, sensory motor, predominantly axonal polyneuropathy with intermittent cranial nerve involvement, Bell’s palsy, etc. | |
| Laboratory tests and diagnosis | Hearing loss; normal MRI of the brain; severe symmetric sensorimotor length-dependent, axonal polyneuropathy with acute and chronic features; mixed axonal and demyelinating neuropathy of the right radial nerve; median nerve conduction velocity 38.9m/s; diagnosed with CMT2 disease | |
| Family history | No symptom of three brothers, three sisters and mother; however, father died from an accident at a young age | |
| Patient 2 | Basic information | Left-handed Caucasian male, 40 yr old (on diagnosis) |
| Major problems | Mental retardation, bipolar disorder, hypertension, cystic kidney disease, and right basal ganglia lacune | |
| Laboratory tests and diagnosis | An MRI of the brain showing thinned corpus callosum in the posterior half; electromyography and nerve conduction velocity measurements implying predominantly length-dependent, axonal, sensorimotor polyneuropathy; diagnosed with autosomal-dominant CMT2 disease | |
| Family history | Brother having the constellation of mental retardation, psychiatric disease, kidney disease, and axonal CMT disease; mother having a history of CMT disease and mild cognitive dysfunction |
| . | . | . |
|---|---|---|
| Patient 1 | Basic information | Left-handed Caucasion male, 55 yr old (on diagnosis) |
| Major problems | Progressive, symmetric, length dependent, sensory motor, predominantly axonal polyneuropathy with intermittent cranial nerve involvement, Bell’s palsy, etc. | |
| Laboratory tests and diagnosis | Hearing loss; normal MRI of the brain; severe symmetric sensorimotor length-dependent, axonal polyneuropathy with acute and chronic features; mixed axonal and demyelinating neuropathy of the right radial nerve; median nerve conduction velocity 38.9m/s; diagnosed with CMT2 disease | |
| Family history | No symptom of three brothers, three sisters and mother; however, father died from an accident at a young age | |
| Patient 2 | Basic information | Left-handed Caucasian male, 40 yr old (on diagnosis) |
| Major problems | Mental retardation, bipolar disorder, hypertension, cystic kidney disease, and right basal ganglia lacune | |
| Laboratory tests and diagnosis | An MRI of the brain showing thinned corpus callosum in the posterior half; electromyography and nerve conduction velocity measurements implying predominantly length-dependent, axonal, sensorimotor polyneuropathy; diagnosed with autosomal-dominant CMT2 disease | |
| Family history | Brother having the constellation of mental retardation, psychiatric disease, kidney disease, and axonal CMT disease; mother having a history of CMT disease and mild cognitive dysfunction |