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juvenile onset Parkinson disease 19A - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Slowness of movement (bradykinesia), Dysarthria, Pill-rolling tremor, and Postural instability and others; and common findings: Hypometric saccades and Muscle stiffness (rigidity). 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Slowness of movement (bradykinesia), Parkinsonism, Dystonia
Eyes	1	Hypometric saccades
Bones and joints	1	Postural instability
Arms and legs	1	Limb hypertonia
Head and neck	1	Hypomimic face
Muscles	1	Loss of ambulation

GeneReviews

Clinical Guidance

DNAJC6 Parkinson disease is a complex early-onset neurologic disorder characterized by typical parkinsonian symptoms including bradykinesia, resting tremor, rigidity, and postural instability. To date, 20 individuals with biallelic DNAJC6 pathogenic variants have been identified, 19 of whom have prominent motor features [, , , , , , ]. One additional individual with early-onset parkinsonism and other findings consistent with DNAJC6 Parkinson disease was compound heterozygous, with one DNAJC6 variant predicted to be pathogenic and one DNAJC6 variant that may potentially be associated with disease manifestations; further study is needed to determine if this variant is benign or pathogenic . The following description of the phenotypic features associated with this condition is based on reports of the 20 individuals with biallelic DNAJC6 pathogenic variants. Table 2. DNAJC6 Parkinson Disease: Frequency of Select Features

Feature	Proportion of Persons w/Feature	Comment
Juvenile onset (age 21 yrs)	Early onset (age 21-50 yrs) Parkinsonism (bradykinesia, resting tremor, rigidity, postural instability)

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

DNAJC6 Parkinson disease should be considered in individuals with the following findings.

Juvenile-onset presentation (onset age 21 years)

Source: GeneReviews — "DNAJC6 Parkinson Disease"

GeneReviews

Differential Diagnosis

Early-Onset Parkinson Disease DNAJC6 Parkinson disease is often clinically indistinguishable from early-onset Parkinson disease and parkinsonism of other etiologies (see Parkinson Disease Overview and ). Rigidity, bradykinesia, and resting tremor are variably combined in these disorders. Table 3. Genes Associated with Early-Onset Autosomal Recessive Parkinson Disease and Parkinsonism in the Differential Diagnosis of DNAJC6 Parkinson Disease

Gene	PDDesignation1	Median Ageat Onset(Range)2	Number ofPersons2,3	Comment
ATP13A2	PARK-ATP13A2 (Kufor-Rakeb syndrome) (OMIM 606693)	14 (0-30) yrs	36	Pyramidal signs, eye movement abnormalities, T2-weighted basal ganglia hypointensity, cerebral cerebellar atrophy, brain stem atrophy
DJ-1	PARK-DJ-1 (OMIM 606324)	27 (15-40) yrs

Genetic testing for DNAJC6 is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for juvenile onset Parkinson disease 19A. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with DNAJC6 Parkinson disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with DNAJC6 Parkinson Disease

System/Concern	Evaluation	Comment
Neurologic	Detailed neurologic exam focusing on presence extent of movement disorder	Unified Parkinson Disease [Fahn Elton 1987] or Movement Disorder Society rating scale may be helpful. Detailed neurologic exam for movement abnormalities
Neuropsychiatric	Formal neuropsychiatric assessment w/neuropsychiatrist	Nutrition/ Gastrointestinal
Musculoskeletal	Detailed orthopedic exam	For secondary complications (e.g., fixed contractures, hip spine abnormalities)
Vision	Ophthalmology eval for eye movement abnormalities vision assessment	Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of DNAJC6 Parkinson disease to facilitate medical personal decision making Family support resources

Source: GeneReviews — "DNAJC6 Parkinson Disease"

GeneReviews

Clinical Guidance

Though there are no data available to date, dopamine antagonists and vesicular monoamine transporter 2 (VMAT2) inhibitors should be avoided as they could aggravate dopamine deficiency. VMAT2 inhibitors prevent reuptake and storage of neurotransmitters into synaptic vesicles and thus could theoretically cause further depletion of presynaptic dopamine.

Source: GeneReviews — "DNAJC6 Parkinson Disease"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "DNAJC6 Parkinson Disease"

Clinical Trials

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with DNAJC6 Parkinson Disease

System/Concern	Evaluation	Frequency
disorder	PT, OT, speech language therapy evals	Every 6 mos or more frequently as needed
Seizures	Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).	At each visit EEG
disorders	Psychiatric assessment	At 1st manifestation of symptoms, then as frequently as needed Sleep disorder
Nutrition	Growth assessment	At each visit in children Assessment of nutritional status to evaluate dietary requirements
Dysphagia	Swallowing assessment to evaluate risk of aspiration	At 1st manifestation of symptoms, then as frequently as needed Gastrointestinal manifestations
manifestations	Hip spine radiographs	Every 6-12 mos in persons:; Who are nonambulatory at age 2 yrs; W/signs/symptoms concerning for spinal deformity
Vision deficits	Ophthalmology eval	At 1st manifestation of symptoms, then as frequently as needed OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "DNAJC6 Parkinson Disease"

Phenotype severity distribution: 8 always present features, 2 common features.

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juvenile onset Parkinson disease 19A

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Juvenile Parkinson's disease: Symptom burden and treatment challenges.

juvenile onset Parkinson disease 19A

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Juvenile Parkinson's disease: Symptom burden and treatment challenges.