Neuromuscular disorders

A neurogenic disease is one which muscle function is insufficient or absent owing to a primary disorder of the peripheral motor neuron. If muscle function is insufficient or absent because the muscle itself is diseased, a patient is said to have a myogenic disorder or myopathy. Disorders of the neuromuscular junction can also impair muscle function: myasthenia gravis is one of the best examples. All disorders of the peripheral motor neuron, the neuromuscular junction and the muscle are called neuromuscular disease. They are:

  • Primary disorders of the peripheral motor neuron
  • Neuromuscular transmission disorders
  • Primary disorders of the muscle

The problem in classifying neuromuscular diseases is that there is no firm basis which to work. The causes of most of the disorders are unknown and for this reason an optimal classification is not possible. Classification of the neuromuscular diseases

  • 1. Disorders of the anterior horn cells
    • Werdnig- Hoffman disease
    • Amyotrophic lateral sclerosis

    2. Disorders of the peripheral nerves
    • Metabolic neuropathies
    • Gullian- Barre syndrome

    3. Neuromuscular transmission disorders
    • Myasthenia gravis
    • Lambart-Eaton syndrome

    4. Disorders of the muscles
    • Duchenne muscular dystrophy
    • Congenital myopathies
    • Mitochondrial myopathies
    • Myotonic disorders
    • Glycogen storage diseases
    • Disorders of the lipid metabolism in muscles
    • Periodic paralyses
    • Inflammatory myopathies
    • Muscle disorders associated with endocrine diseases
    • Other muscle disorders

Many neuromuscular diseases appear to be hereditary. In the case of autosomal dominant disease, it is important to identify all heterozygote since they can pass the disease to 50% of their offspring. Most heterozygote can be identified by the symptoms and signs present on examination.

Autosomal dominant neuromuscular diseases

  • Benign infantile spinal muscular atrophy
  • Ocular myopathy
  • Myotonic dystrophy

Autosomal recessive neuromuscular diseases

  • Malignant infantile spinal muscular atrophy( Werdnig-Hoffmann disease)
  • Hereditary motor and sensory neuropathies

X-linked recessive neuromuscular diseases

  • Duchenne muscular dystrophy
  • Becker-type muscular dystrophy

Many of the neuromuscular diseases are hereditary, which means that no effective treatment leading to recovery has ever been achieved. The best therapeutic results are often obtained with non-hereditary conditions. In most neuromuscular diseases, symptomatic treatment, relying particularly on different form of Physio-occupational therapy, can be of great importance to the patient. The prevention and treatment of contractures is often necessary. With serious paralyses of the legs symptom often develops as a result of poor circulation in the lower legs and feet.

DMD (Duchenne Muscular Dystrophy)
SMA (Spinal Muscular Atrophy)

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