This page is dedicated to the Hyperkintetic Disorders research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Hyperkintetic Disorders research study, established at Boston Children’s in 2021 and is led by Drs. Claudio de Gusmão and Xena Al Qahtani. The study aims to identify genetic causes of cerebral palsy and provide personalized medicine.

Disease information

Hyperkinetic disorders are characterized by abnormal movement with a rapid, involuntary nature. These excess movements can be sustained and patterned, as in dystonia; brief and random, as in chorea; regular and rhythmic, as in tremor; or jerk-like and arrhythmic, as in myoclonus. Learn more about hyperkinetic disorders seen at Boston Children’s.

Genes of interest

ABHD16A, ADAT3, AHDC1, AMPD2, ASXL3, ATL1, B4GALNT1, CACNA1A, CHD3, CHD8, CLTC, COL4A1, COL4A2, CTNNB1, DNMT3A, EBF3, ECHS1, ELP1, ENG, FOXG1, FRMPD4, GCH1, GNAO1, GNB1, HEXA, ITPR1, KCNB1, MAPK8IP3, MECP2, PDHX, POLR2A, POLR3B, RARB, RASA1, SATB2, SLC16A2, SLC2A1, SOX2, SPAST, SPTAN1, THOC2, TRIP12, TUBB2A, TUBB3, ZMYM2

Participate in research

Physicians may refer their patients with hyperkinetic disorders to Dr. de Gusmao. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them.

Patient care

Patients and their families with hyperkinetic disorders can be seen by an expert multidisciplinary team in the Movement Disorders Program at Boston Children’s.

Investigators

Divisions

Movement Disorders Program, Neurology

Notable publications by investigators

A framework for individualized splice-switching oligonucleotide therapy

Disease support organizations

Alternating Hemiplegia of Childhood (AHC) Foundation

The AHC Foundation (AHCF) is a dynamic organization of dedicated people that tirelessly work and advocate for patients to have a better quality of life. Founded in 1995, the AHCF is run by parents of children with AHC.

Ataxia-Telangiectasia (A-T) Childrens Project

The nonprofit A-T Children’s Project (ATCP) partners with academic and industry investigators worldwide — organizing and supporting innovative research, conferences, clinical teams, data platforms and biomarker development — to optimize disease management strategies, develop new treatments and find a cure.

CureDRPLA

CureDRPLA is a US based nonprofit whose mission is to connect families, physicians and scientific investigators to further DRPLA research and work towards a treatment for DRPLA.

Dystonia Medical Research Foundation

The mission of the Dystonia Medical Research Foundation (DMRF) is to advance research for more treatments and ultimately a cure, to promote awareness and education, and to support the needs and well being of affected individuals and families.

For Henry AHC

For Henry AHC's mission is to fund research to develop a treatment for Henry and others with Alternating Hemiplegia of Childhood (AHC). The current focus is on funding research to design an antisense oligonucleotide (ASO) treatment for Henry and to forge a path for ASOs to be developed for all others with AHC and other similar rare genetic neurological diseases.

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. The organization’s mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia through funding Ataxia research, providing vital programs and services for Ataxia families, and partnering with pharmaceutical companies in the search for treatments and a cure.

Tourette Association of America

Tourette Association of America is the only national organization serving the community and works to raise awareness, advance research, and provide ongoing support to patients and families impacted by Tourette Syndrome and Tic Disorders. To this end, the TAA directs a network of 31 Chapters, 83 support groups and recognizes 18 Centers of Excellence across the country.

International

National Ataxia Foundation UK

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