HSAN2- IV:11 | HSAN2-IV:12 | HSAN2-IV:13 | HSAN2-IV:14 | |
---|---|---|---|---|
Age at onset (y) | 6 months | 2 | 7 | 10 |
Present age (y) | 36 | 32 | 30 | 27 |
Sex | Female | Male | Female | Female |
First symptoms | Consecutive limb ulcerations and infections | Consecutive limb ulcerations and infections | Consecutive limb ulcerations and infections | Consecutive limb ulcerations and infections |
Self mutilation | Yes | Yes | Yes | Yes |
Amputation | Bilateral transtibial | Bilateral transtibial | Left 3rd and 5th toes | Left 5th toe |
Sensory involvement of distal extremities | ||||
Deep tendon reflexes | Reduced | Reduced | Reduced | Reduced |
Pain perception | Absent | Absent | Severely Reduced | Severely Reduced |
Touch perception | Absent | Absent | Severely Reduced | Severely Reduced |
Temperature sensation | Absent | Absent | Severely Reduced | Severely Reduced |
Vibration sensation | Reduced | Reduced | Reduced | Reduced |
Position sensation | Reduced | Reduced | Reduced | Reduced |
Pressure sensation | Reduced | Reduced | Reduced | Reduced |
Motor dysfunction | No | No | No | No |
Autonomic involvement | ||||
Gastroesophageal reflux | No | No | No | No |
Constipation | Yes | No | No | No |
Orthostatic hypotension | No | No | No | No |
Episodic hypertension | No | No | No | No |
Recurrent fever episodes | No | No | No | No |
Hearing impairment | No | No | No | No |
Skin hyperkeratosis | Yes | Yes | Yes | Yes |
Lack of fungiform papillae | No | No | No | No |
Mental development | Normal | Normal | Normal | Normal |
Genotype | MM | MM | MM | MM |