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Early Diagnosis of Neuromuscular Disorders is Key, Know the Signs!

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Neuromuscular disorders can be inherited or acquired and include a wide a range of conditions.  Neuromuscular disorders are caused by an abnormality within the peripheral nervous system and are classified depending on where the defect occurs. The peripheral nervous system includes:

  • The nerve cells (anterior horn cells) found in the spinal cord which control the muscles.
  • The peripheral motor nerves in your arms, legs, neck and face.
  • The neuromuscular junction where the nerves and muscles meet
  • The muscles and muscle fibres.

Neuromuscular disorders are, “rare but are generally progressive and will lead to muscle weakness, fatigue and physical disability” ( In some cases children will also have a reduced life expectancy, this varies depending on the disease and its severity but is usually as a result of heart and respiratory problems.

Examples of Neuromuscular Disorders include:

  • Duchenne Muscular Dystrophy
  • Becker Muscular Dystrophy
  • Limb Girdle Muscular Dystrophy
  • Congenital Muscular Dystrophy
  • Charcot Marie Tooth
  • Spinal Muscular Atrophy
  • Juvenile Myasthenia Gravis

Signs to look out for:

Any Developmental Delay.
Children may miss their gross motor milestones e.g. not sitting at 6 months, not standing by 12 months or not walking by 18 months.

Language Delay
Children should be babbling by 10-12 months.

Difficulty with Eating or Feeding
Children may be slow at sucking, swallowing or chewing. They will generally take longer to feed and will tire quickly.

Low muscle Tone
A baby may be described as ‘floppy’.

Children may get tired quickly when walking or playing.

Frequent Falls or Tripping
Children may not be able to pick up their feet properly, or their legs give way due to muscle weakness.

Abnormal Gait
Have you noticed your child’s gait changing?  For instance, have they started walking on their toes?

Any Regression in Gross Motor Skills
This is a cause for concern e.g. if they start finding it hard to get up off the floor, have difficulty climbing the stairs, or are unable to run or jump.

Children with neuromuscular diseases require a multidisciplinary team and a holistic approach to care to ensure coordinated treatment and timely referrals.  A physiotherapist will be able to develop a treatment plan and modify it accordingly in anticipation of changes during periods of growth and development.  Muscle weakness can lead to muscle shortening, joint contractures, chronic pain, postural deformities and reduced ability to walk.

How Can Physio Help?

Maintain Muscle Strength.
It is well documented that “strengthening exercises will not prevent muscle wasting and in some cases can cause further damage to the muscle cells” (Stokes, M. (2004). Physical Management in Neurological Rehabilitation.). Physiotherapists will be able to advise on appropriate exercises and activities.

Manage Muscle Shortening and Joint Contractures
Physios can advise on an individual stretching programme and the use of splints. They can also closely monitor and manage the spine as well as promote mobility with the provision of walking aids, orthotics and/or wheelchairs at the appropriate time.  Physios can also help the management of any respiratory complications.

Our paediatric team are dedicated to making physiotherapy treatment fun and functional in order to help children reach their maximum potential and optimal quality of life.  To book an appointment with one of our paediatric physios, contact us today on 0207 884 0374 or email us at