Metachromatic leukodystrophy, juvenile form
Synonyms: Arylsulfatase A deficiency, juvenile form | MLD, juvenile form
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia gait disturbances reduced deep tendon reflexes spasticity seizures paralysis dementia and loss of speech vision and hearing eventually resulting in complete loss of motor and cognitive skills and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Metachromatic leukodystrophy, juvenile form?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
MLD Foundation
We C.A.R.E.® ... Compassion for families, increasing Awareness, influencing & funding Research, and promoting Education for metachromatic leukodystrophy, a very rare terminal genetic neuro-metabolic lysosomal disease where over half the cases affect infants. Near-term focus is quality of life, newborn screening, and access & reimbursement for emerging therapies.
MPS Society
The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.
Aicardi-Goutieres Syndrome Advocacy Association
AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
cure LBSL
Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Lysosomal Storage Disorders Society – Pakistan
Our mission is to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public.
Lysosomal Storage Disorders Support Society
LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.