Clinical findings of affected members with muscle cramp in a Japanese family
| I - 2 | II - 2 (case 2) | II - 3 (case 3) | II - 4 | |
|---|---|---|---|---|
| Age/sex | 79+/Male | 72/Female | 60/Male | 58/Male |
| Age of onset (y) | Before 30 | Before 30 | Not clear | 16 |
| Age of peak (y) | Not clear | 25∼26 | 30 | Late teens |
| Distribution | Fingers and thighs | Thighs, calves, and toes | Fingers | Franks, abdomen, calves, and fingers |
| Neurological findings | Not examined | Muscle fasciculation Hemiplegia due to thalamic bleeding | Not examined | Not examined |
| Clinical course | Self limiting | Self limiting | Self limiting | Self limiting |
| Lactate/pyruvate | Not examined | Normal | Not examined | Not examined |
| Serum muscle enzymes | Not examined | Normal | Not examined | Not examined |
| EMG | Not examined | Fasciculation and high amplitude potentials | Not examined | Not examined |
| NCV | Not examined | Normal | Not examined | Not examined |
| Complications | Dementia | Thalamic bleeding (at age 71) | NIDDM (at age 48) | None |
| II - 5 | II - 6 (case 4) | II - 7 (case1) |
|---|---|---|
| 56/Female | 53/Female | 51/Male |
| Early 20s | Before 24 | 25 |
| Late 20s | Late 20s | 50 |
| Thighs, calves, hands, and fingers | Thighs, calves, forearms, hands, and fingers, | Thighs, trunk, neck, and fingers |
| Not examined | Not examined | Muscle fasciculation, reduced DTRs |
| Self limiting | Self limiting | Continuous |
| Not examined | Not examined | Normal |
| Not examined | Not examined | Normal |
| Not examined | Not examined | Fasciculation, high amplitude potentials and impaired interference |
| Not examined | Not examined | Mild delay (sensory and motor) |
| Vestibular neuritis (at age 45) | Myoma uteri (at age 48) NIDDM (at age 49) | Rheumatoid arthritis (at age 48) |
| II - 8 | II - 9 | III - 3 | III - 15 | |
|---|---|---|---|---|
| Age/Sex | 46 /Female | 43/Male | 47/Male | 29/Male |
| Age of onset (y) | 9∼10 | 10 | Before 20 | Teens |
| Age of peak (y) | 20s | 30 | 30s | 20s |
| Distribution | Fingers, thighs and calves | Thighs, neck, abdomen, and calves | Fingers, thighs, and toes | Franks, back, neck, abdomen, calves, and fingers |
| Neurological findings | Not examined | Muscle fasciculation, reduced DTRs | Muscle fasciculation, reduced DTRs | Not examined |
| Clinical course | Self limiting | Self limiting | Self limiting | Self limiting |
| Lactate/pyruvate | Not examined | Normal | Normal | Not examined |
| Serum muscle enzymes | Not examined | Normal | Not examined | Not examined |
| EMG | Not examined | Fasciculation and impaired interference | Not examined | Not examined |
| NCV | Not examined | Not examined | Mild delay (sensory and motor) | Not examined |
| Complications | None | None | None | None |
| III - 16 | III - 17 | IV - 1 |
|---|---|---|
| 23/Male | 20/Female | 20/Female |
| Early teens | 6∼8 | 7∼10 |
| Continuously | Late teens | Late teens |
| Neck, calves, hands, and fingers | Neck, lower abdomen, hips, and fingers | Thighs, neck, calves, fingers and toes |
| Not examined | Normal | Normal |
| Continuous | Self limiting | Self limiting |
| Not examined | Normal | Normal |
| Not examined | Normal | Normal |
| Not examined | Not examined | Not examined |
| Not examined | Not examined | Normal |
| None | Colonic diverticula (at age 20 ) | None |