Wells-Jankovic syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Wells-Jankovic syndrome | |||
| synonyms = [[Lesch-Nyhan syndrome]] | |||
| field = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Self-mutilation]], [[Dystonia]], [[Chorea]], [[Cognitive impairment]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[HPRT1 gene]] | |||
| risks = [[Male]] gender (X-linked recessive) | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = [[Cerebral palsy]], [[Tourette syndrome]], [[Rett syndrome]] | |||
| treatment = [[Supportive care]], [[Behavioral therapy]], [[Medications]] for [[symptom management]] | |||
| prognosis = [[Variable]], often [[severe]] | |||
| frequency = Rare | |||
}} | |||
==Definition== | ==Definition== | ||
It is a rare neurologic disease characterized by [[spasm|spastic]] [[paraparesis]] presenting in late [[childhood]] with [[hearing loss]]. | It is a rare neurologic disease characterized by [[spasm|spastic]] [[paraparesis]] presenting in late [[childhood]] with [[hearing loss]]. | ||
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==Symptoms and signs== | ==Symptoms and signs== | ||
The patients affected with this syndrome may present with: | The patients affected with this syndrome may present with: | ||
* Abnormality of | * Abnormality of movement  | ||
* [[Ataxia]] | * [[Ataxia]] | ||
* [[Cataract]] | * [[Cataract]] | ||
Latest revision as of 03:48, 4 April 2025
| Wells-Jankovic syndrome | |
|---|---|
| Synonyms | Lesch-Nyhan syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Self-mutilation, Dystonia, Chorea, Cognitive impairment |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the HPRT1 gene |
| Risks | Male gender (X-linked recessive) |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Cerebral palsy, Tourette syndrome, Rett syndrome |
| Prevention | N/A |
| Treatment | Supportive care, Behavioral therapy, Medications for symptom management |
| Medication | N/A |
| Prognosis | Variable, often severe |
| Frequency | Rare |
| Deaths | N/A |
Definition[edit]
It is a rare neurologic disease characterized by spastic paraparesis presenting in late childhood with hearing loss.
Prevalence[edit]
In the United States, the disease is estimated to affect about 1 in 300 people.
Clinical features[edit]
- Spastic paraparesis presenting in late childhood with hearing loss.
- Other features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor and dysdiochokinesia
Symptoms and signs[edit]
The patients affected with this syndrome may present with:
- Abnormality of movement 
- Ataxia
- Cataract
- Gait disturbance
- Hemiplegia/hemiparesis
- Hyperreflexia
- Hypogonadism
- Impaired pain sensation
- Nystagmus
- Sensorineural hearing impairment
- Short stature
- Spastic paraparesis
- Visual impairment
Diagnosis[edit]
Diagnosis is through a series of tests including:
- Medical History and Physical Exam
- Clinical Procedures
- Laboratory Tests
- Imaging Studies
Laboratory findings[edit]
- Elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials.
- Plasma and fibroblast levels of saturated very long-chain fatty acids are normal.
Management[edit]
Management is supportive care and symptom management.
NIH genetic and rare disease info[edit]
Wells-Jankovic syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Wells-Jankovic syndrome
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