Distal Muscular Dystrophy

What is Distal Muscular Dystrophy?

Distal Muscular Dystrophy (DD) is a term used to describe a set of over thirty genetic diseases. These diseases are all progressive and cause muscle weakness. The voluntary distal muscles and the skeletal muscles of the patients shrink and become weaker with time. The distal muscles are the ones that are farthest from the center of the body. For e.g., the muscles of the limbs. On the other hand, proximal muscles are the muscles located nearest to the center of the body. For e.g., muscles of the shoulder.

Patients with this type of myopathy are unable to perform daily activities like walking or brushing their teeth. That’s because various voluntary muscles of their bodies start wasting away. These disorders have different ages of onset, severity, etc. Different MD patients have different inheritance patterns. Some get this disease at birth; others develop these conditions during their childhoods. Although DD is rare, it often runs in families. That’s why people who have parents with muscular dystrophy need to be very cautious.

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Distal Muscular Dystrophy (DD) is a term used to describe a set of over thirty genetic diseases. These diseases are all progressive and cause muscle weakness.

Symptoms of Distal Muscular Dystrophy

The fundamental symptom of this condition is weakness. Patients start feeling weaker in their lower arms or legs. The symptoms worsen with time. You can get DD at any age in your life. Here are some common symptoms:

  • Delays in motor function growth. Children with this condition learn how to sit up, run, crawl, walk, etc., slower than others. Patients must investigate these signs to determine the potential causes of the delays.
  • Children who can only stand up by pushing their hands on their thighs. This symptom is called the “Gowers sign.” It’s related to Duchenne muscular dystrophy and indicates clear pelvic muscle weakness in the child.
  • DD that causes pharyngeal weakness may cause difficulty swallowing, eating, etc. Typically, people above the age of 35 experience these symptoms.
  • Tibial distal myopathy specifically impacts the muscles near the shin. Typically, people above the age of 40 experience its symptoms. They include – heart instability, inability to walk, weakening thighs, etc.
  • Miyoshi distal myopathy causes frailty in the calf muscles. Typically, between the ages of 15-30 experience these symptoms. Constant weakening of the calf muscles ultimately leads to a complete inability to walk.
  • Enlarged calf muscles causing difficulties while walking or running. Many DD patients have unusual walking gaits from a young age.
  • Constant heart and circulatory problems (arrhythmia, cardiomyopathy issues, etc.).
  • Different forms of DD trigger different types of symptoms. The progression of these symptoms also varies.

The Causes of Distal Muscular Dystrophy

Most versions of this condition are caused by genetic mutations. It’s very rare for a person to develop muscular dystrophy extemporaneously. Typically, one or both parents of patients pass faulty genes to their children. The parent may not have the condition. But the genetic mix-up of the two parents triggers this disease in the child.

When to See a Physiotherapist for Treating Distal Muscular Dystrophy?

Patients who suspect they have muscular dystrophy conditions must visit their doctors as soon as they experience one or two symptoms. That’s because doctors examine such patients (including children) to learn about their family health histories. Doctors put these patients through tests like:

  • Muscle biopsies to rule out other muscle diseases and confirm the DD diagnosis.
  • Genetic testing to verify whether the genes passed down through the patient’s families caused some form of muscular dystrophy.
  • Neurological tests to check the patient’s nervous system functions, inherent reflexes, and coordination skills.
  • Electromyography (EMG) tests measure the electrical activities of their muscles and nerves.
  • Blood tests to discover whether the patient has elevated levels of creatine kinase. It’s an enzyme that indicates clear muscle damage caused by muscular dystrophy. People with these conditions have high levels of this enzyme in their bodies.
  • Other generic tests like electrocardiograms, MRI scans, and ultrasound tests give doctors information about the patient’s muscle quality. If the tests reveal fat is replacing their muscle tissues, doctors start treatment.

Distal Muscular Dystrophy – The Key Risks and Complications

  • Most versions of this condition are known as “X-linked disorders.”
  • These are the genetic diseases that sons can receive from their mothers, even if the mothers themselves don’t have this disease.
  • Men carry two chromosomes - one X and one Y.
  • Females carry two X chromosomes.
  • For a girl to pick up this condition, both their X chromosomes must feature the defective gene, which is very rare.
  • Men are likely to pick up muscular dystrophies.

How to Prevent Distal Muscular Dystrophy?

Genetic counseling is vital for families with track records of inherited dystrophy. But, if spontaneous mutations occur in the womb, no one can prevent this disorder. Some basic prevention steps include -

  • Excellent prenatal care for children with DD.
  • Genetic testing before and during pregnancy.
  • Patients must learn about therapeutic techniques that can help their children improve their strength, posture, and walking patterns.
  • Access to physical therapists who have experience working with children with muscular dystrophy.

Treatments for Distal Muscular Dystrophy

Physiotherapists can help children and adults with muscular dystrophies maintain function. They halt the disorder’s progression by creating individualized treatment plans.

  • Physiotherapists work with children to reduce the risk of joint contractures, cardiorespiratory conditions, and muscle strength issues.
  • Activities like passive and active stretching increase their joint flexibility and delays the development of debilitating contractures.
  • Physiotherapists teach exercises to maintain muscle strength. For example, children learn fun tasks and games that promote muscle strength.
  • Speech therapy for DD patients with swallowing issues.
  • In serious cases, only surgery can relieve the tension on contracted muscles. People with cardiorespiratory conditions may also benefit from heart assistance devices.

Overall, individualized care, medical devices, medications, and therapy can improve the patient’s mobility. These treatments can prevent falls, aid breathing, and improve the patient’s developmental skills. But, for dystrophy patients, treatment priorities shift with time. That’s why constant access to physiotherapy is crucial.

Related Conditions

There are many other genetic diseases that impact muscle functions. Some of them include - inflammatory myopathy, cardiomyopathy, polymyositis, and other neuromuscular diseases.

Frequently Asked Questions

1. What Kind of Physiotherapist helps victims of this condition?
Always look to partner with physiotherapists who have past experience in muscular dystrophies. Children should only visit physiotherapists who are dedicated to the care of children.
2. Can You Cure dystrophy?
It’s a genetic disease, so no. But, physiotherapy can reduce its ill effects.

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