Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. [books.google.com]

Ng et al. (2014) also present evidence for dysfunction of the DAT gene in the new cases. [academic.oup.com]

[…] and tremors, rigidity, slowness of movement, and difficulty with walking and gait.[4] Various other symptoms present less commonly (30-79%), including bradykinesia (slowness of movement), acid reflux, muscular hypertonia, and chorea.[3] Causes[edit] [en.wikipedia.org]

• Feeding Difficulties

  Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). [ncbi.nlm.nih.gov]

• Hyperactivity

  Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine [ncbi.nlm.nih.gov]

  In mice however, mutations to the DAT gene produces prominent hyperactivity rather than Parkinsonian symptoms. [birmingham.ac.uk]

  Population frequency for the p.G399S substitution were generated from Norwegian attention deficit hyperactivity disorder patients ( n = 589) and healthy controls ( n = 640). [pnas.org]

  On neurological examination, the ankle clonus and Babinski sign were no longer present, but the deep tendon reflexes of the legs were hyperactive. [bmcneurol.biomedcentral.com]

• Global Developmental Delay

  A neurodegenerative disorder (OMIM:613135) characterised by infantile onset of parkinsonism and dystonia with global developmental delay, bradykinesia and pyramidal tract signs. [medical-dictionary.thefreedictionary.com]

  Other neurologic features include global developmental delay, bradikinesia and pyramidal tract signs. Sequence similarities Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily. Cellular localization Membrane. [abcam.com]

  These patients have a considerable overlap with Kukor-Rafeb syndrome. [11] Patient 1 presented with features reminiscent of the INAD phenotype, except for the global developmental delay manifest from early infancy. [annalsofian.org]

  The patient presented with global developmental delay since early childhood and exhibited no preceding illness or drug use. There was no family history of dystonia or Parkinson’s disease (Fig. 1 ). [bmcneurol.biomedcentral.com]

• Ocular Flutter

  This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. [ncbi.nlm.nih.gov]

[…] approach to long-term management of this progressive disorder is optimal.[1] Treatment can be split into three categories: treatment of DTDS manifestations, prevention of secondary complications, and monitoring of overall disease progression.[5] Manifestations [en.wikipedia.org]

There is no effective treatment. [diseaseinfosearch.org]

Dystonia provides a practical review of the disorder that emphasizes cost-effective evaluation and treatment and advice on how to apply the current knowledge in clinical practice. [books.google.com]

Treatment may include medicines to control involuntary movements (such as tetrabenazine and benzodiazepines), medicines to control dystonia (such as pramipexole and ropinirole ), and physical therapy to reduce the risk of contractures from muscle rigidity [rarediseases.info.nih.gov]

Treatment Levodopa is the cornerstone of the treatment of dopa-responsive dystonia. [tidsskriftet.no]

The prognosis is thus poor. Treatment - Infantile neuroaxonal dystrophy Resources - Infantile neuroaxonal dystrophy Not supplied. [checkorphan.org]

[…] abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. [2] [3] Classic DTDS is associated with a poor outlook ( prognosis [rarediseases.info.nih.gov]

The invitro functional analysis further confirm previous data that all classical infantile onset DTDS missense mutations studied to date retain dopamine uptake of below 5% and may help predict phenotypic disease severity and prognosis. [mdsabstracts.org]

Clinical presentation varies widely in age of onset, localization, temporal pattern and presence of specific features or associated conditions, and careful diagnosis and then classification is important for prognosis and treatment selection 5,6. [centogene.com]

A confirmed genetic diagnosis may help predict disease prognosis and progression, facilitate early detection and treatment of symptoms, inform family planning and carrier screening, or promote enrollment in clinical trials. [invitae.com]

A study by McClelland et al indicated that there are significant differences in the rate and pattern of pallidal firing according to the etiology and phenotype of dystonia. [emedicine.medscape.com]

Of these, eight were drug-induced, highlighting the importance of this etiology. [e-jmd.org]

The presence of associated findings, however, may suggest a specific etiology. [blepharospasm.org]

This group has proposed to classify dystonia based on two axes: clinical features and etiology. Classifying dystonia by clinical features includes age of onset, body distribution, temporal pattern, and associated features. [rarediseases.org]

These historical reports usually attributed the etiology of the motor abnormalities to overuse. [en.wikipedia.org]

There is a lack of high quality epidemiological data on the disorders, and underdiagnosis is likely ( 6, 12, 13 ). A prevalence in the general population of 0.5 per million is often reported in the literature ( 12, 13 ). [tidsskriftet.no]

To date, epidemiological data related to RDP is limited and fewer than 75 RDP cases have been reported worldwide [ 2 ]. [bmcneurol.biomedcentral.com]

Finally, there has been increasing recognition of both the extramotor phenotype in dystonia and the part played by the cerebellum in its pathophysiology. [journals.lww.com]

Both respond to similar subcortical targets in deep brain stimulation (DBS), suggesting a pathophysiological overlap. [neurologyadvisor.com]

Genetics and pathophysiology of neurodegeneration with brain iron accumulation. Curr Neuropharmacol 2013 ; 11 : 59 –79. 6. S. A. Schneider, K. P. Bhatia. [cambridge.org]

The presumed pathophysiologic mechanism of hemifacial spasm involves the generation of ortho- and antidromic impulses by a damaged area of the facial nerve. [blepharospasm.org]

From the 1990s onwards, studies have been conducted to characterise the underlying genetic causes and associated biochemical deficiencies and pathophysiology. [tidsskriftet.no]

The influenza vaccine is used in combination with prophylactic antibiotics to prevent chest infections.[5] Monitoring[edit] Patients are evaluated every six to 12 months for early evidence of hip dislocation and spinal deformities. [en.wikipedia.org]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

To prevent secondary complications: Start physical therapy early and orthopedic management to help prevent contractures as the disease progresses. Genetics PLAN is inherited in an autosomal recessive manner. [nbiadisorders.org]

Symptoms - Infantile neuroaxonal dystrophy Causes - Infantile neuroaxonal dystrophy Prevention - Infantile neuroaxonal dystrophy Not supplied. [checkorphan.org]

[…] and/or stool softener treatment for constipation Control of secretions and excess drooling with transdermal scopolamine patch or other treatments (as needed) Early physical therapy and orthopedic management to prevent contractures Periodic testing of [nbiacure.org]