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Understanding Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a nervous system disorder wherein the motor neurons in your brain and spinal cord don’t function properly. The nerve cells break down, thereby reducing functionality in the muscles and owing to this loss of muscle control, voluntary movements like gripping, walking, swallowing, talking and sitting are affected, and in some severe cases, breathing too. ALS is also referred to as Lou Gehrig’s disease, named after the baseball player who was diagnosed with it.

 Amyotrophic Lateral Sclerosis Symptoms

In most cases, ALS is genetic. If your parents or grandparents had a similar medical history, there is a chance that you could inherit too. Poor environmental conditions or exposure to toxic substances, stress, and regular smoking or heavy drinking habits can also cause or induce ALS. The symptoms of Amyotrophic Lateral Sclerosis are prominently visible when a person’s muscles twitch or when they experience weakness in their limbs, when they can’t move, or they have trouble eating, breathing, or speaking. What starts with muscle weakness, eventually spreads and gets worse over time.

Some of the signs and symptoms include:

  • Difficulty in performing daily chores or activities
  • Tripping, clumsiness and falling
  • Mood swings and behavioral changes
  • Muscle cramps and twitching in your arms, shoulders and tongue
  • Weakness in your legs, feet, ankles or hands
  • Slurred speech and trouble swallowing
  • Inappropriate crying, laughing or yawning
  • Cognitive and behavioral changes
  • Inability to hold objects and have a proper grip

Understanding Hirayama’s Disease

Hirayama’s Disease is a non-progressive juvenile spinal muscular atrophy that gradually progresses into the atrophy of the muscles in the arms and forearms. Also known as MonoMelic Amyotrophy (MMA), this cervical injury is characterized by muscular weakness and atrophy of distal upper limbs, followed by spontaneous arrest within several years. It is known to primarily affect the lower cervical cord, and more often than not, it is diagnosed in men or male adolescents.

Hirayama’s Disease Diagnosis

To a large extent, Hirayama disease is regarded as an idiopathic condition, which means that it does not have any known causes. Clinical observations, however, do show that excessive movement (flexion) of the neck in the upper cervical region causes the membrane covering the spinal cord to become lax. This anterior displacement of the spinal cord results in its compression, and thereby, becoming damaged. This leads to the various symptoms that characterize Hirayama disease.

Doctors can diagnose it with EMG and NCS to help distinguish Hirayama’s Disease from other similar disorders.

Hirayama Disease Causes and Symptoms

The exact causes of Hirayama’s Disease are not known but certain symptoms are visible, namely, not having too much strength in your arms or neck, and not being able to hold things due to severe weakness in the hands and fingers.

  • Hand muscle weakness and weakened grip
  • Hand muscle wasting
  • Hand muscle cramps
  • Cold hand
  • Clawed hand
  • Twitching of the hand
  • Hand tremors
  • Loss of fine motor control

Differentiating between ALS and Hirayama’s Disease

When a patient presents with weakness and wasting of one limb or particularly an arm, neurologists are faced with a considerable diagnostic challenge. Usually, the specter of the amyotrophic lateral sclerosis form of motor neuron disease (ALS/MND) is often considered, but in case of a differential diagnosis, Hirayama disease is also considered, given that it is a juvenile muscular atrophy of distal upper extremity, involving C7-T1 myotomes that also results in weakness and atrophy of intrinsic muscles of the hand and the forearm. 

Hirayama disease (HD), Amyotrophic Lateral Sclerosis (ALS) and Cervical Spondylotic Amyotrophy (CSA) are all likely to result in atrophy of the intrinsic hand and forearm muscles. However, HD is caused by a benign focal lesion that is limited to the upper limbs. 

Given that ALS is characterized by the degeneration of the upper and lower motor neuronal systems, it is caused by the degeneration of the motor neuron in the brain. Furthermore, ALS is a progressive disease, which means it gets worse over time. As your muscles get weaker, it affects all muscle related movements. 

ALS Treatment

Stem cell therapy is considered a viable treatment option for ALS, since stem cells can sustain and nurture the diseased motor neurons. Stem cells are known to seek out damaged cells in the body and replace them, which is why stem cell transplants are used to protect a patient’s healthy neurons, as well as to potentially grow new cells.

On a generic level, medication and therapy can also slow down ALS and reduce discomfort to a large extent. With barely any guaranteed treatments to reverse the damage caused to motor neurons, some activities can prevent future complications:

  • Medication can help relieve muscle cramps
  • Exercise for Amyotrophic Lateral Sclerosis includes breathing exercises, moderate swimming, walking, bicycling and similar activities that can work on degenerated muscles
  • Speech therapy
  • Good dietary nutrition

Hirayama Disease Treatment

It is said that Hirayama Disease cures on its own, with or without any specific treatment, given that it is a self-limited disease. Regular physiotherapy can surely help to restore strength in the arm and hand muscles, and prevents joint stiffness and immobility. 

That said, Physical Therapy and Occupational Therapy can play a prominent role in strengthening the muscles and improving fine motor skills. Stem Cell Therapy is also known to be effective, since stem cells can multiply and can make the copies of other cells. The latest advancements in the treatment of the Monomelic Amyotrophy have suggested that Stem Cell Therapy repairs and regenerates mechanisms in the body, and mesenchymal stem cells administered in people with Hirayama Disease, can halt or at least slow down the deterioration of muscle weakness and wasting. 

Other treatments include wearing a cervical collar that will gradually reduce neck flexion or alternatively, muscle-strengthening physiotherapy exercises that can improve the strength of hand muscles. Surgical treatments (once confirmed after an MRI) involves an operation of the cervical spine followed by the insertion of a small disc. 

FAQS

What diseases are like ALS?

Diseases that are like Amyotrophic Lateral Sclerosis (ALS) are:

  • Primary lateral sclerosis (PLS)
  • Kennedy syndrome
  • Multifocal neuropathy
  • Muscular atrophy
  • Inclusion body myositis
  • Thyrotoxic myopathy
  • Lambert-Eaton myasthenic syndrome
  • Lyme disease

How long does Hirayama disease last?

Hirayama’s Disease could last for about 1-5 years since the first time it starts showing. It is a self-limiting disease, so it may also be cured automatically. 

What is the most common first symptom of ALS?

The first few frequent symptoms of ALS include:

  • Muscle cramps or weakness
  • Difficulty with speaking properly
  • Difficulty with grasping or holding things
  • Difficulty with breathing and talking
  • Twitching 

Who is most likely to get ALS?

Studies have proven that men are more likely to get ALS than women. And top of that, military personnel and athletes are more likely to get diagnosed with this. Mainly because of the harmful environmental exposure they live in. Though genetics play a significant role, who is most likely to get ALS is still a topic scientists are exploring.

Why is ALS becoming more common?

ALS is becoming common because of the lifestyle we’re leading. Exposure to environmental toxins in the brain increases susceptibility to motor neuron disease with the added stress. Even a high level of exercise can trigger ALS.

To summarize, the prognosis is good in Hirayama’s disease compared to other forms of motor neuron diseases with less morbidity and prolonged survival. The primary principle of treatment continues to be a restriction of neck flexion. Amyotrophic Lateral Sclerosis, on the other hand, is heralded by progressive muscle weakness, paralysis and death. With early detection and intervention, you can keep the symptoms well under control and enjoy all the activities you love.

References:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216382/

https://www.karger.com/Article/FullText/508994

https://www.hindawi.com/journals/crinm/2016/5839761/

Dr Na'eem Sadiq is a respected stem cell specialist at Plexus, and a prominent neurologist in Bangalore. He studied neurology and clinical neurophysiology in London, and worked with some of the most prestigious medical institutions in England, and the Middle East. He completed his MBBS at Bellary Government Medical College, and a postgraduate degree in psychiatry from NIMHANS in Bangalore.

Dr Na'eem has perfected his knowledge and expertise in Continuing medical education (CME), and training in tissue culture, Stem Cell Therapy, and neurology. Dr Na'eem Sadiq possesses an undying passion to improve people’s lives. This led to the creation of Plexus, a neuro and Stem Cell Research centre in Bangalore in neurosurgery, and neurorehabilitation.