Feb 08, 2018 monomelic amyotrophy mma is a rare disease that causes muscle weakness in the upper extremities. The disease is seen more frequent in men in the 2nd and 3rd decades. Motor differential diagnosis hereditary amyotrophic lateral sclerosis. A case presentation on a patient with the familial form of. Monomelic definition of monomelic by medical dictionary. Monomelic amyotrophy ma, also known as hirayama disease, is a rare, benign lower motor neuron disease. The characteristic clinical features were insidious onset in the second and third decades, male preponderance, sporadic occurrence, wasting and weakness confined to one limb, and absence of involvement of the cranial nerves, cerebrum, brain stem, and sensory. Hirayama disease turkish journal of physical medicine and. Our muscles are contracting and relaxing due to continuous signals that are given by the motor neurons located in the brain and spinal cord. Hirayama disease monomelic amyotrophy gokhan alkan1, gurkan akgol2, arif gulkesen2, arzu kaya2 1tunceli state hospital department of physical medicine and rehabilitation, tunceli, turkey 2firat university faculty of medicine, department of physical medicine and rehabilitation, elaz. Amyotrophy is a weakness and wasting of muscles or limbs.
Monomelic amyotrophy mma is a rare disease that causes muscle weakness in the upper extremities. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. Feb 28, 2015 monomelic amyotrophy mma, also known as hirayama disease, is a sporadic juvenile muscular atrophy in the distal upper extremities, which predominantly affects the lower cervical cord e. My husband diagnosed with monomelic amyotrophy recently.
I am reposting here hopefully more clearly than i was in the teahouse, with a short reference to this on your project page. Benign monomelic amyotrophy bma is a rare condition in which neurogenic amyotrophy is restricted either to the upper or to the lower limb1,2. Combining two sorts of wrist positions in one splint is a novel. Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting amyotrophy in one or both shoulders and arms. Monomelic amyotrophy associated with the 7472insc mutation in the mtdna trnaserucn gene. A clinical study of hirayama disease in taiwan request pdf. Hirayama disease hd, also interchangeably referred to as monomelic amyotrophy, has been more frequently recognised in the west only in the last two decades. Central motor conduction in brachial monomelic amyotrophy. What is the prognosis for monomelic amyotrophy mma. Monomelic amyotrophy definition of monomelic amyotrophy by.
The data suggested that kiaa77 and c5orf42 may synergistically play a role as susceptibility genes for monomelic amyotrophy. Histologic findings are dependent on the underlying cause. Chapter 11 monomelic amyotrophy of upper or lower limbs. Nascimento abstract a consecutive series of 21 patients with single limb atrophy monomelic amyotrophy is reported. From 1977 through 1981, we examined 23 patients with singlelimb atrophy. Occupationbased hand therapy in a baker with monomelic. A 28yearold white man presented with insidiousonset, slowly progressive, unilateral weakness and atrophy of his. Proximal involvement of the arm and shoulder muscles is an unusual presentation that has been rarely reported in the literature. About europe pmc funders joining europe pmc governance roadmap outreach. Benign monomelic amyotrophy with lower limb involvement in an adult. Monomelic amyotrophy nosology hirayama disease course. The symptoms of mma usually progress slowly for one to two years before reaching a plateau and then remain stable for many years. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement skeletal muscles.
Monomelic amyotrophy mma, also known as hirayama disease, is a sporadic juvenile muscular atrophy in the distal upper extremities, which predominantly affects the lower cervical cord e. Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity. Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron gene. Previously thought to be restricted to japan and south asia, it is now clear that this condition does occasionally occur in europe and merits consideration. The diagnostic criteria of benign monomelic amyotrophy haluk yavuz department of pediatrics, selcuk university meram faculty of medicine, konya, turkey to the editor, i read the article entitled benign monomelic amyotrophy in a 7yearold girl with proximal upper limb involvement. It is characterized by weakness and wasting in a single limb, usually an. Monomelic amyotrophy is an uncommon, benign, unilateral disorder of the lower motor neurons, affecting predominantly the hand and forearm muscles. Monomelic amyotrophy mma, is a rare motor neuron disease first described in 1959 in japan. Diagnosis and management of diabetic amyotrophy about 50% of patients with diabetes mellitus worldwide suffer from diabetic peripheral neuropathy dpn. Monomelic amyotrophy information page national institute of. Mri may also reveal forward displacement of the cervical dural sac and compressive flattening of the.
Examples of conditions that can be monomelic include fibrous dysplasia and melorheostosis. These two conditions are similar in that they include the wasting away of a muscle or limb, but hna is usually concentrated at the shoulder and accompanied. Most cases are sporadic, although a familial form has been reported. Mar 27, 2019 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. Abstract monomelic amyotrophy is a rare form of motor neuron disease usually presenting as painless asymmetric weakness and atrophy in the distal upper.
Paraneoplastic lower motor neuron syndrome 8 epidemiology. Benign monomelic amyotrophy with lower limb involvement in an. Monomelic amyotrophy, also known as hirayama disease, is a rare motor neuron disease that causes a painless, asymmetric weakness and atrophy in the distal upper extremities. Monomelic amyotrophy mma is a benign motor neuron disease with bilateral muscular atrophy in. Monomelic amyotrophy is a rare disorder marked by the progressive loss and degeneration of motor neurons. Monomelic amyotrophy with proximal upper limb involvement.
Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms. This disease is characterized by muscle wasting and weakness, affecting predominantly the lower cervical myotomes. Hirayama disease, distal bimelic amyotrophy, dbma, brachial monomelic. Since its original description by keizo hirayama in 1959, juvenile muscular atrophy of the unilateral upper extremity has been described under many nomenclatures from the east. These two conditions are similar in that they include the wasting away of a muscle or limb, but hna is usually. Monomelic amyotrophy of the upper limb or hirayama disease is mostly considered as an anterior horn disorder resulting from local ischemia, triggered by arterial compression from an anterior shifting of the posterior cervical dura upon neck flexion. When bma is restricted to the distal aspect of the upper limb it is called hirayama disease4,5. A 28yearold white man presented with insidiousonset, slowly progressive, unilateral weakness and atrophy of his left.
Monomelic amyotrophy mma is a benign motor neuron disease with bilateral muscular atrophy in asymmetry and abnormal in the. Monomelic medical definition merriamwebster medical dictionary. The diagnostic criteria of benign monomelic amyotrophy. Pdf our objective was to characterize the mr imaging features in a large and distinct series of. The most common form of dpn is a symmetrical, predominantly sensory, polyneuropathy with distal onset and slow proximal progression. Sixteen had lower limb atrophy and five had upper limb involvement. Monomelic amyotrophy or juvenile nonprogressive amyotrophy of the upper limb is rarely encountered in the general neurology clinics but it may be under diagnosed. Nosology of juvenile muscular atrophy of distal upper. Monomelic medical definition merriamwebster medical. Monomelic amyotrophy, or hirayama disease, was first reported in japan by dr.
Mar 17, 2016 monomelic amyotrophy is an uncommon, benign, unilateral disorder of the lower motor neurons, affecting predominantly the hand and forearm muscles. A revised and updated directory for the internet age. This disorder usually develops in the late teens and early twenties with a male preponderance. Monomelic definition at, a free online dictionary with pronunciation, synonyms and translation. Spinal dynamics in monomelic amyotrophy 20000801 ahc. Mar 05, 2020 amyotrophy is a weakness and wasting of muscles or limbs.
Bma is usually sporadic, it has an insidious onset and slow progression followed by stabilization in 24 years. History merge monomelic amyotrophy i revised an article using my sandbox and need to carry out a history merge. Monomelic amyotrophy genetic and rare diseases information. Monomelic is typically used to refer to a condition that is confined to only one limb. Monomelic amyotro hirayamas dis practical neurology. The characteristic clinical features were insidious onset in the second and third decades, male preponderance, sporadic occurrence, wasting and weakness confined to. There are many different conditions that are related to amyotrophy, but the most common two are monomelic amyotrophy mma and hereditary neuralgic amyotrophy hna. Monomelic amyotrophy als amyotrophic lateral sclerosis. Article information, pdf download for occupationbased hand therapy in a. Part ii moves on to advanced research dedicated to monomelic amyotrophy. Monomelic amyotrophy definition of monomelic amyotrophy.
The study of monomelic amyotrophy has been mentioned in research publications which can be found using our bioinformatics tool below. Monomelic amyotrophy may also be known as benign focal amyotrophy, single limb atrophy, hirayama syndrome or sobue disease. Descriptive terms such as brachial monomelic amyotrophy mma confined. Diabetic amyotrophy is characterized by relatively rapid, progressive asymmetrical weakness and pain in the muscles in the proximal lower extremities. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services. Monomelic amyotrophy ma is a rare, benign motor neuron disorder. Monomelic amyotrophy treatment with stem cells swiss medica. Disease bioinformatics research of monomelic amyotrophy has been linked to muscular atrophy, atrophy, weakness, spinal muscular atrophies of childhood, flexed fetal attitude.
Monomelic amyotrophy mma is a rare disease of the nerves that control voluntary movements of the limbs. Collectively, the material presented in part i is a complete primer on basic research topics for patients with monomelic amyotrophy. It is characterized by weakness and wasting in a single limb, usually an arm and hand instead of a foot and leg. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males average age of onset, 15 to 25yearold. Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. Furthermore, signs and symptoms of monomelic amyotrophy may vary on an individual basis for each patient. Hirayama in 1959 and initially labeled juvenile muscular atrophy of a unilateral later distal upper extremity.
Monomelic amyotrophy of upper or lower limbs table 11. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. Monomelic amyotrophy mma is a benign motor neuron disease with bilateral muscular atrophy in asymmetry and abnormal in the electromyography. This signs and symptoms information for monomelic amyotrophy has been gathered from various sources, may not be fully accurate, and may not be the full list of monomelic amyotrophy signs or monomelic amyotrophy symptoms. Hereditary neuralgic amyotrophy genetics home reference.
Monomelic amyotrophy ma is a rare benign lower motor neuron disorder characterized by muscular. Thirteen had upperlimb and ten had lowerlimb involvement. Mma a pure movement disorder characterized by degeneration and death of motor neurons, resulting in atrophy of a limb, typically one arm. The anterior horn cells showed shrinkage and necrosis, various degrees of degeneration of large and small neurons, and mild gliosis. Monomelic amyotrophy symptoms, diagnosis, treatments and. This means that monomelic amyotrophy, or a subtype of monomelic amyotrophy, affects less than 200,000 people in the us population. Clinical findings, emg characteristics and differential diagnosis pdf. Monomelic amyotrophy hirayama disease with upper motor. The official parents sourcebook on monomelic amyotrophy. Blum fracs prince of wales medical research institute and the institute of neurological sciences, prince of wales hospital, randwick, sydney, nsw 2031, australia summary monomelic amyotrophy is a rare clinical. Monomelic amyotrophy information page national institute. 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. Mma should be considered in differential diagnosis in patients presenting with amyotrophy involving lower and. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the.
Monomelic amyotrophy is a rare restricted form of motor neuron disease. It also gives you sources of information that can help you find a doctor in your local area specializing in treating monomelic amyotrophy. Please tell us where you read or heard it including the quote, if possible. It is characterized by weakness and wasting limited to a. In some patients with monomelic amyotrophy, mri demonstrates focal and unilateral atrophy in the lower cervical cord, which is limited to the anterior horn region.
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