Myopathy Centronuclear – Symptoms

What is Centronuclear Myopathy?
Centronuclear Myopathy is also called Myotubular Myopathy. It is a rare type of disease which might be described as a muscle wasting disease. The muscle tone becomes low. It might happen as a result of a defect in the cell structure.

As it is a rare disease it might get affected by birth or in the early childhood.

The myopathy is a condition which causes muscle weakness. There are twelve types of myopathies. It affects the muscle tissue. The word ‘myo’ means muscle and ‘pathos’ means disease.

Types of Centronuclear Myopathy

There are three types of Centronuclear Myopathy. All these three centronuclear myopathy are caused by genetic abnormalities. They are:

  • X-linked
  • Autosomal recessive
  • Autosomal dominant

X-linked: It is a form of myopathy which is mostly found in men.

Autosomal recessive: It might be described as a recessive irregularity which happens due to gene abnormalities.

Autosomal dominant:
This form of myopathy is also caused by the normal or abnormal genes. The name of the gene which causes autosomal dominant is dynamin.

Centronuclear Myopathy Symptoms
The centronuclear myopathy symptoms might show up in the early childhood or at the early stages of adolescence.
The primary symptoms of centronuclear myopathy are:

  • Facial muscle weakness
  • Irregularities in the diaphragm
  • Neck muscle weakness
  • Hypoxia which might demand breathing aids
  • Extra ocular muscle weakness
  • Hydramnios
  • Scaphocephaly
  • Hypotonia
  • Severe pain in the legs
  • Chronic respiratory problems
  • Thinning of the ribs
  • Weakness of the eyes

Signs of X-linked Myotubular Myopathy:

  • Mechanical ventilation during the sleep
  • Ophthalmoplegia, technical name for a condition which involves weakness of muscles which control eye movements
  • Areflexia
  • Weakness in the muscles of face
  • Contractures of the knees and hips
  • Scoliosis
  • A large head and a narrow and elongated face

Facts and Statistics on Centronuclear Myopathy:

  • A New York City neurologist Dr. Spiro discovered this disease in the year 1966 and mentioned about it in a medical report published in the same year.
  • Even after four decades of its discovery, the medical world has no clear explanation about the genetic origin of this disease.
  • 1 in every 50,000 male births has this disease and in 80 percent of these males there is change diagnosed in the structure of a gene called MTM1.
  • In seven percent cases, it is found that a part of the gene MTM1 is missing, responsible for the change in the structure of it.
S.No. Type of Centronuclear Myopathy Associated Gene
Autosomal recessive
Autosomal dominant
  • X-linked myotubular myopathy affects children in infancy and the life expectancy of these babies is less than 2 years.
  • Autosomal dominant type of centronuclear myopathy affects individuals in their adolescence and the life expectancy of these individuals can be between 12-74 years.
  • Children with congenital myopathies in the United States receive therapy services through Early Intervention Programs from 0-3 years and later special education services are provided to these individuals under the federal Individuals with Disabilities Education Act.
  • It is hard for these children to follow the normal curriculum of the school and recurrent respiration infections can lead to missed school days.

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