Rare diseases · Sign or symptom
Progressive neurologic deterioration
Worsening neurological symptoms
HP:0002344
Rare diseases that can present with this27
Very common80–99%
7- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Infantile Krabbe disease
- Mucopolysaccharidosis type 3
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Niemann-Pick disease type C
- Non-insulinoma pancreatogenous hypoglycemia syndrome
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
Common30–79%
13- Adult-onset distal myopathy due to VCP mutation
- Autosomal dominant spastic paraplegia type 9B
- Bilateral striopallidodentate calcinosis
- CACH syndrome
- Congenital hyperinsulinism due to HNF4A deficiency
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Hereditary cerebral amyloid angiopathy
- Infantile neurovisceral acid sphingomyelinase deficiency
- Leigh syndrome
- Mucopolysaccharidosis type 2
- Pineoblastoma
- Schilder disease
- Spinocerebellar ataxia with epilepsy
Sometimes5–29%
5The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Neurologic deterioration · Neurologic deterioration, progressive · Progressive mental deterioration · Progressive neurodegeneration
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.