Contributor
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Clinician completing the survey
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Today M-D-Y Date of survey completion
Do you follow a patient with a diagnosis of a movement disorder with or without epilepsy due to pathogenic variants in any of the follow genes (1 choice per survey):
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AARS2 ALG13 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP1A3 CACNA1A CACNA1E CACNA2D2 CDKL5 CSTB DARS2 DLAT DLD DNM1 EARS2 EPG5 EPM2A FARS2 FOXG1 FRRS1L GABRA1 GABRA2 GABRB2 GABRB3 GABRG2 GNAO1 GRIA2 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D HARS2 HNRNPU IQSEC2 KCNA2 KCNB1 KCNC1 KCNMA1 KCNQ2 KCNQ3 KCNT1 LARS2 MECP2 MEF2C MTND5 MTTK MTTL1 NARS2 NHLRC1 PCDH12 PCDH19 PDE10A PDE2 PDHA1 PDHB PDHX PDK3 PDP1 PIGA PIGN PIGP PIGQ PIGS PLCB1 POLG PRRT2 PURA RHOBTB2 SCN1A SCN1B SCN2A SCN8A SCN9A SETBP1 SETD5 SLC13A5 SLC1A2 SLC25A22 SLC2A1 SMC1A SNX14 SPTAN1 ST3GAL3 STXBP1 SYNGAP1 SYNJ1 SZT2 TARS2 TBC1D24 TBL1WL1 UBA5 UBE3A VAMP2 VARS2 WARS2 WDR45 WWOX YIF1B YWHAG
Choose one per survey.
Affected Alleles?
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Mono-allelic (1 allele mutated)
Bi-allelic (2 alleles mutated in trans)
Please enter the variant details
Variant - Allele 1 [DNA] (c.__________)
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For example: c.4023del. For any copy number variant, enter "microdeletion" or "microduplication" as free text.
Variant - Allele 1 [protein] (p.__________)
For example: p.Lys1342AsnfsTer29
Variant - Allele 2 [DNA] (c.__________)
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For example: c.4023del. For any copy number variant, enter "microdeletion" or "microduplication" as free text.
Variant - Allele 2 [protein] (p.__________)
For example: p.Lys1342AsnfsTer29
Inheritance
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Inherited De novo Parents/family not tested or unknown
Diagnosis was made by
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Array comparative genomic hybridization (aCGH) (also known as chromosomal microarray)
Single gene testing (Sanger sequencing)
Multigene Panel
Exome sequencing
Genome sequencing
Other
Information not available.
Is this patient still alive?
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Yes
No
Age at death (years)
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0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99
Age at death (months)
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0 1 2 3 4 5 6 7 8 9 10 11
Age at death (in years and months)
years months
Female
Male
Age at last evaluation (years)
0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99
Age at last evaluation (months)
0 1 2 3 4 5 6 7 8 9 10 11
Age at last evaluation (in years and months)
years months
Age at genetic diagnosis (years)
0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99
Age at genetic diagnosis (months)
0 1 2 3 4 5 6 7 8 9 10 11
Age at genetic diagnosis (in years and months)
years months
Age at first diagnosis of epilepsy
Neonatal Period (0-1 month) Infancy (1-12 months) Toddler (1-3 years) Early Childhood (4-7 years) Middle Childhood (7-12 years) Adolescence (12-18 years) Early Adulthood (18-30 years) No epilepsy
Age at first diagnosis of a movement disorder
Neonatal Period (0-1 month) Infancy (1-12 months) Toddler (1-3 years) Early Childhood (4-7 years) Middle Childhood (7-12 years) Adolescence (12-18 years) Early Adulthood (18-30 years)
Location of the patient (country)
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Afghanistan Albania Algeria Andorra Angola Antigua and Barbuda Argentina Armenia Austria Azerbaijan Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bhutan Bolivia Bosnia and Herzegovina Botswana Brazil Brunei Bulgaria Burkina Faso Burundi Cabo Verde Cambodia Cameroon Canada Central African Republic Chad Channel Islands Chile China Colombia Comoros Congo Costa Rica Côte d'Ivoire Croatia Cuba Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic DR Congo Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Eswatini Ethiopia Faeroe Islands Finland France French Guiana Gabon Gambia Georgia Germany Ghana Gibraltar Greece Grenada Guatemala Guinea Guinea-Bissau Guyana Haiti Holy See Honduras Hong Kong Hungary Iceland India Indonesia Iran Iraq Ireland Isle of Man Israel Italy Jamaica Japan Jordan Kazakhstan Kenya Kuwait Kyrgyzstan Laos Latvia Lebanon Lesotho Liberia Libya Liechtenstein Lithuania Luxembourg Macao Madagascar Malawi Malaysia Maldives Mali Malta Mauritania Mauritius Mayotte Mexico Moldova Monaco Mongolia Montenegro Morocco Mozambique Myanmar Namibia Nepal Netherlands Nicaragua Niger Nigeria North Korea North Macedonia Norway Oman Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Réunion Romania Russia Rwanda Saint Helena Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines San Marino Sao Tome & Principe Saudi Arabia Senegal Serbia Seychelles Sierra Leone Singapore Slovakia Slovenia Somalia South Africa South Korea South Sudan Spain Sri Lanka State of Palestine Sudan Suriname Sweden Switzerland Syria Taiwan Tajikistan Tanzania Thailand The Bahamas Timor-Leste Togo Trinidad and Tobago Tunisia Turkey Turkmenistan Uganda Ukraine United Arab Emirates United Kingdom United States Uruguay Uzbekistan Venezuela Vietnam Western Sahara Yemen Zambia Zimbabwe
Please select the most prominent movement disorder phenomenology:
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Dystonia Chorea/Choreoathetosis Ballism Myoclonus Ataxia Parkinsonism Tremor Stereotypies Tics Spasticity
Please describe the typical variation of the most prominent movement disorder
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Permanent Paroxysmal Both permanent and paroxysmal
Diurnal fluctuation of the most prominent movement disorder?
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Yes
No
Please select the second most prominent movement disorder phenomenology
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Dystonia Chorea/Choreoathetosis Ballism Myoclonus Ataxia Parkinsonism Tremor Stereotypies Tics Spasticity None
Please describe the typical variation of the second most prominent movement disorder
Permanent Paroxysmal Both permanent and paroxysmal
Diurnal fluctuation of the second most prominent movement disorder?
Yes
No
Select all that apply upon examination at last follow up
Dystonia
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Yes
No
Orofacial dystonia
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Yes
No
Cervical dystonia
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Yes
No
Truncal dystonia
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Yes
No
Limb dystonia
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Yes
No
History of status dystonicus
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Yes
No
Oculogyric crises
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Yes
No
Chorea
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Yes
No
Athetosis
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Yes
No
Ballism
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Yes
No
Orofacial dyskinesia
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Yes
No
Ataxia
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Yes
No
Cerebellar ataxia
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Yes
No
Truncal ataxia
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Yes
No
Limb ataxia
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Yes
No
Gait ataxia
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Yes
No
Tremor
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Yes
No
Rest tremor
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Yes
No
Action tremor
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Yes
No
Tremor of the head/chin
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Yes
No
Tremor of the upper extremities
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Yes
No
Tremor of the lower extremities
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Yes
No
Myoclonus
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Yes
No
Focal or segmental myoclonus
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Yes
No
Generalized myoclonus
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Yes
No
Eyelid myoclonus
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Yes
No
Paroxysmal dyskinesia
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Bradykinesia
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Yes
No
Hypomimia
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Yes
No
Rigidity
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Yes
No
Spasticity
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Yes
No
Spasticity in legs
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Yes
No
Spasticity in arms
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Yes
No
Motor stereotypies
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Yes
No
Motor tics
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Yes
No
Vocal tics
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Yes
No
Axial hypotonia
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Yes
No
Severity of hypotonia
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Severe Moderate Mild None
Head control achieved
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Yes
No
Independent sitting achieved
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Yes
No
Age at ambulation (years)
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0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99
Age at ambulation (months)
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0 1 2 3 4 5 6 7 8 9 10 11
Independent walking achieved
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Yes
No
Age at independent walking achieved
years months
Level of ambulation at last visit
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Level 0. Walking unrestricted.
Level I. Can walk indoors and outdoors and climb stairs without using hands for support. Can perform usual activities such as running and jumping. Has decreased speed, balance and coordination.
Level II. Has the ability to walk indoors and outdoors and climb stairs with a railing. Has difficulty with uneven surfaces, inclines or in crowds. Has only minimal ability to run or jump.
Level III. Walks with assistive mobility devices indoors and outdoors on level surfaces. May be able to climb stairs using a railing. May propel a manual wheelchair. May require assistance for long distances or uneven surfaces.
Level IV. Walking ability severely limited even with assistive devices. Uses wheelchairs most of the time and may propel their own power wheelchair. May participate in standing transfers.
Level V. Has physical impairments that restrict voluntary control of movement and the ability to maintain head and neck position against gravity. Is impaired in all areas of motor function. Cannot sit or stand independently, even with adaptive equipment. Cannot independently walk, though may be able to use powered mobility.
Age at walking aid dependence (years)
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Toddler (1-3 years) Early Childhood (4-7 years) Middle Childhood (7-12 years) Adolescence (12-18 years) Early Adulthood (18-30 years) Does not use
Age at wheelchair dependence (years)
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Toddler (1-3 years) Early Childhood (4-7 years) Middle Childhood (7-12 years) Adolescence (12-18 years) Early Adulthood (18-30 years) Does not use
History of developmental delay
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None Mild Moderate Severe
Intellectual disability
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None Mild Moderate Severe Information not available or too young (< 5 years of age)
Motor delay
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Yes
No
Speech delay/impairment
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Yes
No
Non-verbal
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Yes
No
Dysarthria
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Yes
No
Hypophonia
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Yes
No
Developmental or cognitive regression
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Yes
No
Behavioral dysregulation
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Yes
No
Autistic features
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Yes
No
Attention-deficit hyperactivity disorder
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Yes
No
Self-injurious behaviors
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Yes
No
Sleep disorders
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Yes
No
Head circumference
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Normocephalic Microcephalic (Occipitofrontal circumference more than 2-3 standard deviations below the mean for age and sex) Macrocephalic (Occipitofrontal circumference more than 2-3 standard deviations above the mean for age and sex) Information Not Available
Epilepsy
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Yes
No
Type of seizures
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Focal aware (or simple partial seizure) Focal impaired awareness (or complex partial seizure) Focal to bilateral tonic-clonic (or secondary generalized seizure) Generalized motor seizures Generalized non-motor seizures Unknown Onset None Information not available
Medically-refractory seizures (seizures despite 2 or more adequately dosed anti-seizure medications)
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Yes
No
Developmental and epileptic encephalopathy (drug-resistant epilepsy and global developmental delay in early childhood)
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Yes
No
Infantile spasms
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Yes
No
Ohtahara syndrome
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Yes
No
Lennox-Gastaut syndrome
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Yes
No
Dravet syndrome
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Yes
No
Epilepsy of infancy with migrating focal seizures
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Yes
No
Current level of seizure control
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Complete Partial Uncontrolled
Ocular/vision abnormalities
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Gastrointestinal abnormalities
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Cerebral atrophy on head CT or brain MRI
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Yes
No
Information not available
Cerebellar atrophy on head CT or brain MRI
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Yes
No
Information not available
Brain stem atrophy on head CT or brain MRI
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Yes
No
Information not available
Cerebellar hypoplasia on head CT or brain MRI
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Yes
No
Information not available
Brain stem hypoplasia on head CT or brain MRI
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Yes
No
Information not available
Presence of other developmental brain malformations on head CT or brain MRI
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Yes
No
Information not available
Signal abnormalities in the basal ganglia on brain MRI
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Yes
No
Information not available
White matter signal abnormalities on head CT or brain MRI
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Yes
No
Information not available
Evidence of iron deposition on brain MRI
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Yes
No
Information not available
Evidence of calcifications on head CT or brain MRI
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Yes
No
Information not available
Additional findings on head CT or brain MRI
Is or was the patient taking any of the following medications (current & past)
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Has botox (or equivalent) - i.m. injections shown
Has cannabidiol or other cannabis preparation shown
Has deu-tetrabenazine shown
Has levodopa/carbidopa shown
Has trihexyphenidyl shown
Other past or present medications for seizures or movement disorders not listed above
Type "N/A" if there are no other medications
Is/was the patient receiving treatment with a ketogenic diet?
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Yes
No
Is the patient receiving deep brain stimulation
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Yes, globus pallidus internus (GPi) Yes, subthalamic nucleus (STN) Yes, thalamus (VIM or VOA) No
If so, what was the impact of DBS on the dystonia?
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Very much improved Much improved Minimally improved No change Minimally worse Much worse Very much worse
Is the patient receiving treatment with an intrathecal baclofen pump
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Yes
No
Has this patient been previously reported in a peer-reviewed publication?
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Yes
No
Please provide the PMID
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