Is Monomelic Amyotrophy progressive?
Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles.
Is SMA a progressive disease?
SMA is a genetic neuromuscular disease that can significantly affect quality of life and life expectancy. It’s a progressive disease that gets worse over time. Symptoms may be present at birth (type 1), or develop during childhood (type 2 or 3) or in adulthood (type 4).
How long does Hirayama disease last?
As “Hirayama disease” is considered a self-limited disease and often stops progressing after 1–5 years of onset, the mainstay of treatment consists of preventing neck flexion using a cervical collar to halt further progression.
Can Hirayama disease be cured?
Application of cervical collar for 3 to 4 years has been generally advocated for the treatment of Hirayama’s disease because progression of signs and symptoms is usually expected to cease within several years.
What causes Monomelic Amyotrophy?
The exact cause of Monomelic amyotrophy is unknown. Monomelic amyotrophy can sometimes run in families, but it is not thought to be caused by a specific genetic change. Diagnosis of the disease is based on imaging studies and electromyography (EMG) consistent with the disease.
What does Amyotrophy mean?
Amyotrophy is an asymmetric lower limb motor neuropathy also known as diabetic lumbosacral plexus neuropathy and Bruns-Garland syndrome. Patients typically present with an asymmetric, painful muscle wasting and weakness affecting the lower limbs and loss of reflexes and objective weakness on examination.
Can you walk with SMA?
People with SMA might not be able to walk or stand on their own, or they might lose their ability to do so later on in life. Children with type 2 SMA will have to use a wheelchair to get around. Children with type 3 SMA may be able to walk well into adulthood.
Is Hirayama disease a disability?
The person affected by the disease experiences a certain level of disability due to the disease. On rare occasion, the weakness associated with Hirayama’s disease may progress to the person’s opposite limb.
How do you prevent Hirayama?
The treatment of HD involves cervical collar immobilization in neck extension; however, this requires compliance with collar for a prolonged duration. Surgical fixation to maintain neck extension without decompression or fusion is another treatment modality described.
What is the life expectancy of someone with SMA?
The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported.
What causes Amyotrophy?
Muscle atrophy can occur due to malnutrition, age, genetics, a lack of physical activity or certain medical conditions. Disuse (physiologic) atrophy occurs when you don’t use your muscles enough.
What causes amyotrophy?
How serious is spinal atrophy?
Spinal muscular atrophy type IV is rare and often begins in early adulthood. Affected individuals usually experience mild to moderate muscle weakness, tremors, and mild breathing problems. People with spinal muscular atrophy type IV have a normal life expectancy.
What is it like to live with spinal muscular atrophy?
How many people have Hirayama?
As of 2014 there had been less than 1500 described cases, starting with the patients in Hirayama’s 1959 study. The condition is disproportionately high in Asia but no conclusive reason has been found for this. To date the largest studies recorded are Japan (333 cases), India (279 cases), and China (179 cases).
How common is Hirayama disease?
Hirayama’s disease is a rare, clinical variant of amyotrophic lateral sclerosis where distal muscles are involved, more compared to proximal muscles and vice-versa occurs only in 10% cases,[4,5] just like in our case which makes our case even more interesting.
What is MMA (monomelic amyotrophy)?
Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons.
What is the pathophysiology of monomelic amyotrophy?
MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement ( skeletal muscles ). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers.
Is there a cure for monomelic amyotrophy?
Unfortunately, there is no cure for monomelic amyotrophy (MMA). However, there are treatment options that can help manage symptoms of the disease and slow the progression of muscle weakness.
What is the history of monomelic amyotrophy?
The disease (disorder) was first described by Keizo Hirayama in 1959 as “juvenile muscular atrophy of unilateral upper extremity”. In 1984 Mandavilli Gourie-Devi (et al) introduced the term “monomelic amyotrophy”. The disease primarily (but not exclusively) affects young (15- to 25-year-old) males.