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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