Brain dopamine-serotonin vesicular transport disease
Definition[edit | edit source]
A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Epidemiology[edit | edit source]
The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date.
Cause[edit | edit source]
- Brain dopamine-serotonin vesicular transport disease is caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles.
Gene mutations[edit | edit source]
Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation.
Inheritance[edit | edit source]
It is inherited in an autosomal recessive manner, and genetic counseling is recommended.
Signs and symptoms[edit | edit source]
- Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation.
- Motor development is delayed and later manifestations include severe parkinsonism, dystonia, ataxia, oculogyric crises, sleep and mood disturbances, temperature instability, excessive diaphoresis, ptosis and postural hypotension.
- Symptoms show no diurnal variation, do not improve with intake of vitamin B12 or folinic acid and worsened after administration of L-dopa.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormal foot morphology(Abnormal feet structure)
- Abnormality of eye movement(Abnormal eye movement)
- Abnormality of the vasculature(Abnormality of blood vessels)
- Cognitive impairment(Abnormality of cognition)
- Dysarthria(Difficulty articulating speech)
- Dysdiadochokinesis(Difficulty performing quick and alternating movements)
- Fatigue(Tired)
- Generalized hypotonia(Decreased muscle tone)
- Global developmental delay
- Hyperhidrosis(Excessive sweating)
- Hypomimic face(Dull facial expression)
- Inappropriate crying
- Limb dystonia
- Muscular hypotonia of the trunk(Low muscle tone in trunk)
- Nasal speech(Nasal voice)
- Oculogyric crisis
- Orofacial dyskinesia
- Parkinsonism
- Poor head control
- Postnatal microcephaly
- Ptosis(Drooping upper eyelid)
- Shuffling gait(Shuffled walk)
- Sleep disturbance(Difficulty sleeping)
- Spastic tetraparesis
- Stridor
- Tremor
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Brain dopamine-serotonin vesicular transport disease is a rare disease.
- Need help finding a doctor or specialist anywhere in the world? WikiMD's DocFinder can help with millions of doctors!
This article is a stub. Help WikiMD grow by registering to expand it. |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju