Differential Diagnosis for Huntington-like Presentation from Birth
Single Most Likely Diagnosis
- Benign Hereditary Chorea: This condition presents with chorea (involuntary movements) from infancy or early childhood, which can resemble Huntington's disease. It is often associated with a family history and has a more benign course compared to Huntington's.
Other Likely Diagnoses
- Ataxia-Telangiectasia: Although primarily known for its ataxic symptoms, some patients can exhibit chorea. It's a progressive condition with onset typically in the first few years of life, also involving immunodeficiency and a predisposition to malignancies.
- Pantothenate Kinase-Associated Neurodegeneration (PKAN): A form of neurodegeneration with brain iron accumulation (NBIA), PKAN can present with dystonia, parkinsonism, and sometimes chorea, usually starting in early childhood.
- Glutaric Aciduria Type 1: This metabolic disorder can cause dystonic and choreiform movements, often becoming apparent after an acute encephalopathic crisis in early childhood.
Do Not Miss Diagnoses
- Wilson's Disease: Although it typically presents later in childhood or adolescence, Wilson's disease can occasionally manifest with neurological symptoms, including chorea, from an early age. Missing this diagnosis can be fatal due to the potential for liver failure and neurological deterioration if left untreated.
- Mitochondrial Disorders: Certain mitochondrial diseases, such as Leigh syndrome, can present with a variety of neurological symptoms including chorea, and are critical to diagnose due to their potential for severe progression and the importance of early intervention.
Rare Diagnoses
- Friedreich's Ataxia: Primarily characterized by progressive ataxia, some patients may exhibit choreiform movements. It usually starts in childhood or adolescence but can occasionally present earlier.
- Huntington's Disease-Like 2 (HDL2): An extremely rare condition that mimics Huntington's disease but is caused by an expansion of a CTG/CAG repeat in the JPH3 gene. It's crucial to consider in patients with a Huntington's-like presentation without the typical Huntington's disease genetic findings.
- Dentatorubral-Pallidoluysian Atrophy (DRPLA): A rare autosomal dominant disorder that can present with a variety of symptoms including chorea, ataxia, and myoclonus, typically starting in childhood or adolescence.