Related Experiment Video
Updated: Aug 27, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
The Expanding Spectrum of Dystrophinopathies: HyperCKemia to Manifest Female Carriers
Renu Suthar1, Shivan Kesavan1, Indar K Sharawat2
1Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Insights
X-linked dystrophinopathies, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), present with diverse symptoms. This study highlights less common manifestations, emphasizing the need for broader clinical awareness.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- X-linked dystrophinopathies encompass a broad range of clinical presentations.
- Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most frequent forms.
- Less common manifestations include cardiomyopathy, myalgia, rhabdomyolysis, hyperCKemia, and affected female carriers.
Purpose of the Study:
- To document the diverse clinical spectrum of dystrophinopathies in a pediatric neuromuscular clinic.
- To increase awareness of less common presentations for improved diagnostic accuracy.
Main Methods:
- A case series approach was utilized.
- Data were collected from a long-term prospective cohort of children with DMD and BMD since 2013.
- Clinical, cardiology, radiology, and genetic investigation details were systematically recorded.
Main Results:
- Reported cases include classical DMD, BMD, a female carrier with pelvic girdle weakness, and a female carrier with dilated cardiomyopathy.
- Infantile-onset asymptomatic hyperCKemia was observed.
- Less common presentations such as autism, intellectual disability, epilepsy, and asymptomatic transaminitis in DMD were documented.
Conclusions:
- Clinicians must recognize the wide variability in dystrophinopathy manifestations.
- Awareness of these less common presentations aids in prompt diagnosis and avoids unnecessary investigations.
- This case series expands the understanding of the diverse clinical spectrum of dystrophinopathies.
Background:
X-linked dystrophinopathies have a wide spectrum of manifestation. The most common forms are severe Duchenne muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD). However, less common manifestations are isolated cardiomyopathy, myalgia, cramps, rhabdomyolysis, hyperCKemia, and manifest female carriers.
Materials And Methods:
This case series is a part of an ongoing long-term prospective cohort of children with DMD and BMD from the year 2013. The clinical details are maintained in the clinic files and standard management protocols are followed. For this case series, clinical details were collected from the clinic files and recorded on a case record proforma. Details of cardiology, radiology, and genetic investigations were collected.
Results:
We report cases of classical DMD, BMD, manifest female carrier with proximal pelvic girdle weakness, a female carrier with isolated dilated cardiomyopathy, and infantile-onset asymptomatic hyperCKemia. We also report less common but notable clinical presentations of DMD, autism, intellectual disability, epilepsy, and asymptomatic transaminitis.
Conclusions:
It is important for clinicians to be aware of these less common clinical presentations for prompt diagnosis, and to avoid unnecessary investigations. Here, we report the clinical spectrum of dystrophinopathies seen in pediatric neuromuscular clinic and emphasize the variability and expanding knowledge about different manifestations of dystrophinopathies.
Related Concept Videos
01:43Sex-linked Disorders
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:19X-linked Traits
01:35Pedigree Analysis
01:30Cardiomyopathy II: Dilated Cardiomyopathy
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...