Evidence map›Paper›PMID 42865615›Full record

ArticleClinical case reports2026

Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource-Limited Setting.

Kanza Farhan, Muhammad Burhan Tariq, Amna Farhan, Erma Khalid, Suhaira Hafeez Syed, Mohammed Hammad Jaber Amin

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

6 authors.

Kanza FarhanSindh Medical College Jinnah Sindh Medical University Karachi Pakistan.ORCID https://orcid.org/0009-0002-6211-7522
Muhammad Burhan TariqSindh Medical College Jinnah Sindh Medical University Karachi Pakistan.ORCID https://orcid.org/0009-0000-6908-0836
Amna FarhanShaheed Mohtarma Benazir Bhutto Medical College, Lyari Karachi Pakistan.ORCID https://orcid.org/0009-0007-7013-728X
Erma KhalidNational Institute of Child Health/National Institute of Cardiovascular Diseases Karachi Pakistan.ORCID https://orcid.org/0009-0004-5457-1420
Suhaira Hafeez SyedJinnah Postgraduate Medical Center Karachi Pakistan.ORCID https://orcid.org/0009-0001-1311-6403
Mohammed Hammad Jaber AminFaculty of Medicine Alzaiem Alazhari University Khartoum Sudan.ORCID https://orcid.org/0000-0002-1366-2375

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In regions with high consanguinity, rare recessive disorders like Ullrich congenital muscular dystrophy (UCMD) may present at birth with hypotonia and respiratory distress. To enhance quality of life and prevent recurrence in future pregnancies, early recognition, genetic counseling, and care from a multidisciplinary team of specialists are essential.

Indexed as

case reportconsanguinitygenetic myopathyneonatal hypotoniaPakistanrare diseaserespiratory distresstertiary careUllrich congenital muscular dystrophy

Identifiers

PMID42865615
PMCPMC13655366

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.