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Werdnig Hoffmann Disease

Spinal Muscular Atrophy or Werdnig-Hoffmann disease is also called as SMA1 or spinal muscular atrophy 1. This condition is inherited in an autosomal recessive manner. Degeneration of the nerve cells in the lowest region of the brain and degeneration of specific motor neurons (nerve cells that transmit nerve impulses from brain or spinal cord to the muscles) in the spine lead to muscle weakness. Slowly chewing and breathing also become a challenge. The lower limbs are generally weaker when compared to the upper limbs. These motor neurons are associated with activities such as crawling, walking, sitting up and controlling head movement.

As this condition leads to muscle weakness, kids born with this syndrome are unable to sit up without external support. Amongst the different types of spinal muscular atrophy, Werdnig-Hoffmann disease is the most severe. SMA1 is classified into 3 subgroups depending on the clinical signs and the period of onset.

Type I: Severe weakness since birth, head control is never achieved. Such children are mostly unable to support their head or sit unassisted. Choking and gagging occurs while breathing and swallowing.

Type II: Onset of weakness within 2 months from birth, head control is not achieved.

Type III: Onset of weakness after neonatal period however head control is achieved. A few children may be able to sit up with the help of external support.

Type IV: This type of spinal muscular atrophy occurs after the age of 30. There might be muscle weakness and tremors. In most cases, only the proximal muscles or those closest to the center of the body are affected. There might be involuntary muscle contractions, limb cramps and protrusion of abdomen.

There is no cure for Werdnig-Hoffmann disease and it is a fatal type disorder. The management of this condition could include support from speech therapy, occupational therapy, physiotherapy, palliative medical care and respiratory medicine.

Becker muscular dystrophy

Becker muscular dystrophy or BMD is one of the nine types of muscular dystrophies characterized by muscle wasting and weakness which is mainly proximal. it is caused by mutations in the same genes as is the case with Duchenne muscular dystrophy. Becker muscular dystrophy is also caused by a mutation of the dystrophin gene, which is responsible for the body to make the protein dystrophin, that is essential for normal muscle function. However, BMD is less severe and is slow in its progression and generally, walking difficulties begin after the age of 16. Becker muscular dystrophy affects only boys and young men, and women are generally only the carriers of the mutated gene.

Symptoms of BMD

Becker muscular dystrophy affects the muscles of the hips, pelvic area, thighs and shoulders, as well as the heart. The symptoms typically start to surface during adolescence and become clearly noticeable by the time the child reaches his mid teens. The health of the patient worsens over time and shortens his life expectancy. The majority of people diagnosed with BMD do not survive beyond 40 or 50 years.

Some of the symptoms include:

  • Delay in walking and running for young children

  • Unexplained clumsiness

  • Cramps during exercise

  • Unable to join school sports

  • Weak muscles near torso

  • Enlarged calf muscles

  • Difficulty lifting weights and climbing stairs

  • Falling and finding it hard to get up again

  • Heart problems

  • Complete inability to walk

  • Cardiomyopathy

Diagnosis and treatment

The following are some of the diagnostic tests conducted before confirming the Becker muscular atrophy. Serum test for assessing creatine kinase as raised CK levels call for further investigation.

  • Genetic analysis to detect abnormal dystrophin gene

  • Muscle biopsy - for dystrophin staining

  • Testing for Cardiomyopathy

Treatment of BMD

There is no permanent cure for any muscular dystrophy. Becker muscular dystrophy needs to be managed according to the particular symptoms of each patient. The main aim of the treatment is to optimize the muscle functioning and increase the quality of the life. Physiotherapy, steroid medications, orthopaedic aids such as splints, braces, and genetic counseling go a long way in giving support to the patient.

Tags: #Werdnig Hoffmann Disease #Becker muscular dystrophy
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Collection of Pages - Last revised Date: February 23, 2024