Evidence map›Paper›PMID 42495432›Full record

ArticleClinical case reports2026

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado-Joseph Disease Presenting as Charcot-Marie-Tooth Disease: A Case Report.

Enoch Chi Ngai Lim, Chi Eung Danforn Lim

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Enoch Chi Ngai LimTranslational Research Department Specialist Medical Services Group Earlwood New South Wales Australia.ORCID https://orcid.org/0009-0009-6349-4531
Chi Eung Danforn LimTranslational Research Department Specialist Medical Services Group Earlwood New South Wales Australia.ORCID https://orcid.org/0000-0002-4448-8154

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 60-year-old Chinese woman with Machado-Joseph disease (MJD/SCA3), initially managed as Charcot-Marie-Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary neuropathy diagnoses.

Indexed as

case reportCharcot–Marie–Tooth diseaseMachado–Joseph diseaseneurodegenerative disorderperipheral neuropathyspinocerebellar ataxia

Identifiers

PMID42495432
PMCPMC13392492

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.