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September 24, 2025International Journal of Contemporary PediatricsOpen Access

TNNT1-associated nemaline myopathy: a rare case report from a tertiary centre in central India

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Authors

MBMukesh Bhavanagare SVS. Vishnu SKShubham KambleMahatma Gandhi Institute of Medical Sciences

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Implication

This case report illustrates a rare genetic disorder causing muscle weakness in a young child, highlighting the importance of genetic evaluation and supportive care.

Key Points

A 3-year-old girl with nemaline myopathy presents global motor delay and hypotonia, indicating severe muscle weakness.
Whole exome sequencing identified a homozygous TNNT1 variant, confirming the diagnosis of nemaline myopathy.
Supportive care, including nutritional and physiotherapy interventions, led to clinical improvement in the child.
This case emphasizes the need for early suspicion and genetic testing in diagnosing disorders like nemaline myopathy.

Cite This Study

Bhavanagare et al. (2025) studied this question.

synapsesocial.com/papers/68d6e0fc8b2b6861e4c3f2e3 https://doi.org/10.18203/2349-3291.ijcp20252969

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Implication

This case report illustrates a rare genetic disorder causing muscle weakness in a young child, highlighting the importance of genetic evaluation and supportive care.

TNNT1-associated nemaline myopathy: a rare case report from a tertiary centre in central India

Discussion

Member takes

Implication

Key Points

Cite This Study

TNNT1-associated nemaline myopathy: a rare case report from a tertiary centre in central India

Discussion

Member takes

Implication

Key Points

Cite This Study

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