Interesting signs in facioscapulohumeral muscular dystrophy in a child

Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy in the world after Duchenne muscular dystrophy and myotonic dystrophy. The age of onset of FSHD varies from infancy to late adulthood. The prevalence ranges from 1:8000 to 20,000, with sixty percent of the disease population in Asian population. We report interesting signs in a genetically proven case of Facioscapulohumeral Muscular Dystrophy in a 9 years old child who had presented with facial muscle weakness, shoulder girdle weakness followed by hip girdle weakness. The clinician should be aware of this rare genetic condition especially when there is asymmetric weakness of facial and shoulder girdle muscles.

Authors

Institutions

Publication Details

Journal
International Journal of Contemporary Pediatrics
Published
2025-09-23
DOI
https://doi.org/10.18203/2349-3291.ijcp20252973
Primary Topic
Muscle Physiology and Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Interesting signs in facioscapulohumeral muscular dystrophy in a child

Richa Sinha, Anuja Pathak
International Journal of Contemporary Pediatrics
Muscle Physiology and Disorders
article

Interesting signs in facioscapulohumeral muscular dystrophy in a child

Richa Sinha, Anuja Pathak
article en

Abstract

Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy in the world after Duchenne muscular dystrophy and myotonic dystrophy. The age of onset of FSHD varies from infancy to late adulthood. The prevalence ranges from 1:8000 to 20,000, with sixty percent of the disease population in Asian population. We report interesting signs in a genetically proven case of Facioscapulohumeral Muscular Dystrophy in a 9 years old child who had presented with facial muscle weakness, shoulder girdle weakness followed by hip girdle weakness. The clinician should be aware of this rare genetic condition especially when there is asymmetric weakness of facial and shoulder girdle muscles.

International Journal of Contemporary PediatricsVol. 12(10)
Military Hospital (PK), Command Hospital (IN)
Openalex Percentile: Top 77%
Muscle Physiology and Disorders
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.