Reduced Mobility

Many rare diseases affect muscles, nerves or bones, leading to reduced mobility. They can also be progressive, that is, its symptoms can worsen over time. 

This gradual loss of muscle strength, coordination, or balance, often causes partial or total loss of movement, requiring assistive devices (wheelchairs, walkers and others) and home adaptations.

Rare diseases that reduce mobility

Some rare syndromes, even though not primarily muscular, can impact a patient’s mobility.

Metabolic disorders, such as Fabry or Gaucher Disease, may cause pain, fatigue and joint issues that impact physical performance.

Inflammatory or autoimmune rare diseases, such as Lupus, can damage joints, connective tissue or nerves, leading to pain and difficulty movement.

Besides, ataxias, leukodystrophies and other neurological rare diseases can impair coordination and balance.

Other rare disorders recognized for reducing movement are:

• Duchenne Muscular Dystrophy (DMD): causes progressive muscle weakness and loss of ambulation.
• Spinal Muscular Atrophy (SMA): affects motor neurons, leading to muscle atrophy and impaired mobility.
• Pompe disease: a metabolic disorder causing muscle weakness, respiratory issues, and difficulty walking.
• Osteogenesis imperfecta: a rare bone fragility disorder that limits mobility due to frequent fractures.

Secondary causes

Mobility reduction can also result from secondary complications. Long hospitalization and chronic pain, for example, can cause muscle wasting. Joint stiffness may occur in patients with chronic inflammations; not to mention the psychological effects like depression or social withdrawal, reducing activity levels even more.

Importance of early diagnosis and rehabilitation

Reduced mobility is both a symptom and a consequence of many rare diseases, reflecting the physical, neurological and systemic nature of these conditions. 

Therefore, we must act before mobility issues progress and become even permanent, in order to delay mobility loss. 

When diagnosis occurs early, patients benefit from target therapies, physical therapy and assistive technology, as well as multidisciplinary care to maintain function and independence. 

References:

• EURORDIS – Rare Diseases Europe. (2023). Recognising the disabilities of those living with rare diseases. Rare Barometer Programme. 
• Alfieri, P., Hameed, S., Guha, A., van den Bogaart, E., & Stevens, E. (2023). A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases. Orphanet Journal of Rare Diseases, 18, 276. 
• Weidemann, M. L., Atkinson, L. E., & Perlman, S. L. (2024). Health-related quality of life in patients with Friedreich ataxia using mobility assistive technologies. Advances in Therapy, 41, 2301–2315. 
• Cans, C., Mermet, M. A., & Grandjean, H. (2007). Rare diseases in disabled children: An epidemiological survey. Developmental Medicine & Child Neurology, 49(6), 443–446.