Table 2.
Additional features in patients with KMT2B-related dystonia (n = 44)
| Pt | Birth/neonatal issues | DD/pre-dystonia | ID/ASD | Microcephaly/OFC (centile) | Weight/height (centile) | Dysmorphism | Eyes | Dermatology | Psychiatric | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | N | N | N/N | N/9th | 9th-25th/75th | N | N | N | Depression | N |
| 2 | N | N | N | N | 50th/99th | N | N | N | ADHD | N |
| 3 | 35 weeks/NICU: 10 days poor feeding | N | N/N | Y/< 0.4th | < 0.4th/2nd | High palate; dental overcrowding | Delayed and slow saccades | N | N | Choreoathetoid movements; precocious puberty (8 years) |
| 4 | 34 weeks/Twin, IUGR; NICU: 3 weeks | N | N/N | N | < 0.4th/0.4th | N | End gaze nystagmus | N | N | Precocious puberty (9 years) |
| 5 | 34 weeks/Twin, IUGR; NICU: 3 weeks | N | N/N | N | < 0.4th/0.4th | N | End gaze nystagmus | N | N | Precocious puberty (9 years) |
| 6 | Term/Need oxygen for 1 day | N | Mild/N | N/ | 50th/25th | Subtle dysmorphic features | N | N | Anxiety | Bicuspid aortic valve; 2 febrile convulsions |
| 7 | Mild feeding difficulties | N | Mild/N | N | 75th/50th/ | N | N | N | N | LL spasticity; facial hypomimia |
| 8 | Term/MAS | Y/speech delay |
N/N | N/9th | NR/Short, no centile available | Elongated face; 5th finger clinodactyly | Myopic | N | N | IDDM; hypothyroidism |
| 9 | Term/IUGR | Y | Mild-Mod/N | Y/2nd | < 0.4th/< 0.4th | Retrognathia | Slow vertical saccades | N | Emotional lability | Pyramidal signs |
| 10 | Term/N | N | Mild-Mod/N | Y/< 0.4th | NR | Elongated face; bilateral 5th finger clinodactyly | N | N | N | Precocious puberty; pyramidal signs; GORD |
| 11 | Term/N | N | N/N | Y/< 0.4th | 0.4th/0.4th | Subtle facial dysmorphic features | Oculomotor apraxia |
N | N | N |
| 12 | Term/N | N | N/Y | Y/2nd | 50th/9th-25th | N | N | N | ADHD | N |
| 13 | Term/N | Y/speech delay |
Mild/N | NR | 9–25th/0.4th-2nd | N | Slow saccades | Thickened toenails |
Anxiety | Migraine |
| 14 | Term/IUGR | N | Mild/N | Y/< 0.4th | 2nd/25th | Micrognathia, thick upper and lower lip; everted lower lip | Terminal nystagmus |
N | N | Right-sided myoclonus; hyporeflexia |
| 15 | Term/N | N | N/N | N | 75th/9th | N | Astigmatism | N | N | N |
| 16 | Term/N | Y | Mild/N | N | NR/2nd | N | N | N | Depression; aggressive (occasional) |
N |
| 17 | Term/N | Y/N | Mild/N | NR | NR/NR | Brachydactyly | Slow vertical saccades | N | Y; psychotic symptoms | Pyramidal signs |
| 18 | Term/N | N | N/N | NR | NR/NR | Bulbous nasal tip | N | N | N | N |
| 19 | Term/N | N | N/N | Y/<3rd | <0.4th/NR | Bulbous nasal tip | NR | Dermatitis | N | N |
| 20 | Term/N | Y/speech delay |
N/N | NR | 2nd/< 0.4th | N | NR | N | N | Precocious puberty |
Patients 1–20 are shown. Patients 21–44 are provided in the Supplementary material. ADHD = attention deficit hyperactivity disorder; ASD = autistic spectrum disorder; Derm = dermatological; GORD = gastro oesophageal reflux disease; ID = intellectual disability; IDDM = insulin dependent diabetes mellitus; IUGR = intrauterine growth restriction; LL = lower limb; MAS = meconium aspiration syndrome; mod = moderate; N = no; NICU = neonatal intensive care unit; NR = not recorded; OFC = occipitofrontal circumference; Y = yes.