Rigid spine muscular dystrophy (RSMD) is a type of congenital muscular dystrophy that usually begins at birth or within the first few months of life. Weakness of the muscles of the torso and neck are among the hallmarks of this condition.

When do the symptoms of RSMD begin?

The onset of symptoms in RSMD usually occurs during early infancy. The condition progresses slowly, and the severity and occurrence of symptoms may vary from patient to patient.

Characteristic symptoms of RSMD

As the name suggests, the characteristic feature of RSMD is spine stiffness. It typically affects the muscles in the neck and the back.

Individuals with RSMD also have breathing problems, since the condition affects the muscles that help in respiratory functions.

The signs and symptoms of RSMD also can occur in other types of muscular dystrophy. The co-occurrence of spinal rigidity, muscle weakness in the head and back, and breathing problems are usually considered a characteristic of RSMD.

Other symptoms

Some other common symptoms of RSMD include:

  • Poor head control
  • Stiff neck and spine
  • Hypotonia, or low muscle tone, causing muscle weakness
  • Delay in motor function such as crawling or walking
  • Spinal contractures, or deformities due to the spinal muscle wasting, or atrophy
  • Scoliosis or curved spine, resulting in abnormal posture
  • Weak diaphragm (skeletal muscles that support breathing)
  • Breathing difficulty that results in insufficient oxygen intake (respiratory insufficiency)

 

Last updated: August 27, 2019

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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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