Benign monomelic amyotrophy bma is a rare form of motor neuron disease of unknown cause and its characterized by weakness and muscular atrophy. Monomelic amyotrophy ma is a rare condition in which neurogenic amyotrophy is restricted to an upper or lower limb. Monomelic amyotrophy article about monomelic amyotrophy. Benign monomelic amyotrophy in a 7yearold girl with proximal upper limb involvement. Benign monomelic amyotrophy bma is a rare condition in which neurogenic amyotrophy is restricted either to the upper or to the lower limb1,2.
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. Diagnosis and management of diabetic amyotrophy about 50% of patients with diabetes mellitus worldwide suffer from diabetic peripheral neuropathy dpn. 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. Nosology of juvenile muscular atrophy of distal upper. Pdf pmonomelic amyotrophy is an uncommon, benign, unilateral disorder of the lower motor neurons, affecting predominantly the hand and forearm. The characteristic clinical features were insidious onset in the second and third decades, male preponderance, sporadic occurrence, wasting and weakness confined to. Monomelic amyotrophy mma, also known as hirayama disease, sobue disease, juvenile nonprogressive amyotrophy and juvenile asymmetric segmental spinal muscular atrophy jassma is an untreatable, focal motor neuron disease that primarily affects young 1525 year old males in india and japan.
A case presentation on a patient with the familial form of monomelic amyotrophy. Apr, 2020 amyotrophy is a weakness and wasting of muscles or limbs. Monomelic amyotrophy symptoms, diagnosis, treatments and. Benign monomelic amyotrophy had been considered variant of spinal muscular atrophy with focal emphasis and a benign course.
Monomelic amyotrophy with proximal upper limb involvement. Hirayama disease, monomelic amyotrophy, motor neuron disease. Benign monomelic amyotrophy with proximal upper limb involvement. Our muscles are contracting and relaxing due to continuous signals that are given by the motor neurons located in the brain and spinal cord. Primarily affecting males aged 1525, it is characterized by a gradual onset of muscle atrophy which after a few years, becomes nonprogressive. Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity. It can occur in middleaged males with type 2 diabetes.
Monomelic amyotrophy mma is a rare disease that causes muscle weakness in the upper extremities. Necropsy in one patient with monomelic amyotrophy who died of unrelated causes revealed lesions only in the anterior horns of the spinal cord over a few segments. Thirteen had upperlimb and ten had lowerlimb involvement. Examples of conditions that can be monomelic include fibrous dysplasia and melorheostosis. Benign monomelic amyotrophy with proximal upper limb. What is the prognosis for monomelic amyotrophy mma. Spinal dynamics in monomelic amyotrophy 20000801 ahc. Monomelic is typically used to refer to a condition that is confined to only one limb.
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. Monomelic amyotrophy is a rare restricted form of motor neuron disease. Pdf monomelic amyotrophy mma is a benign motor neuron disorder. Hirayama disease turkish journal of physical medicine and. Letters to editor familial monomelic amyotrophy hirayama disease.
Part i explores basic techniques to researching monomelic amyotrophy e. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. It differs from other lower motor neuron disorders in that it involves only one limb. It is characterized by weakness and wasting in a single limb, usually an arm and hand instead of a foot and leg. Monomelic amyotrophy definition of monomelic amyotrophy. Monomelic amyotrophy ma is a rare disorder in which neurogenic amyotrophy is restricted to a superior or inferior limb, generally sporadic, and characterized by gradual, often insidious onset12. When bma is restricted to the distal aspect of the upper limb it is called hirayama disease4,5. Rarely, the weakness progresses to the opposite limb. Histologic findings are dependent on the underlying cause. Monomelic amyotrophy ma is a rare benign lower motor neuron disorder. The symptoms of mma usually progress slowly for one to two years before reaching a plateau and then remain stable for many years. 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.
Monomelic amyotrophy mma is a rare disease of the nerves that control voluntary movements of the limbs. Pdf monomelic amyotrophy hirayama disease with proximal. Monomelic amyotrophy information page national institute. This rare disease affects mostly unilateral second motor neuron of upper limbs. The clinical features of monomelic amyotrophy have been described, and the essential features are focal atrophy of muscles of upper limb in adults, mainly restricted to the c8 to t1 segments, although in a few patients, proximal muscles may be involved with no evidence of upper motor neuron signs. Upper limb proximal form of monomelic amyotrophy is a rare clinical entity with a wide differential diagnosis. This disorder usually develops in the late teens and early twenties with a male preponderance. 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. To which als amyotrophic lateral sclerosis and variants falling under the same umbrella as being classified as motor neuron disease mnd. Two brothers with classical flexion induced dynamic changes of the cervical dural sac sir, in hirayama disease or monomelic amyotrophy mma, dynamic changes of the cervical dural sac and spinal cord associated with neck flexion have been suggested to cause transient cord.
Abstract monomelic amyotrophy ma is a rare condition in which neurogenic amyotrophy is restricted to an upper or lower limb. Hd presents in adolescence and young adulthood with insidious onset unilateral or bilateral asymmetric atrophy of hand and forearm with sparing of brachioradialis. Mma a pure movement disorder characterized by degeneration and death of motor neurons, resulting in atrophy of a limb, typically one arm. Amyotrophy is a weakness and wasting of muscles or limbs. These two conditions are similar in that they include the wasting away of a muscle or limb, but hna is usually concentrated at. Mar 17, 2016 monomelic amyotrophy is an uncommon, benign, unilateral disorder of the lower motor neurons, affecting predominantly the hand and forearm muscles.
Monomelic amyotrophy page 4 als amyotrophic lateral. Most cases are sporadic, although a familial form has been reported. Monomelic amyotrophy mma is a benign motor neuron disease characterized by neurogenic amyotrophy, which usually affects one of the upper or lower extremities. Benign monomelic amyotrophy with lower limb involvement in an adult. The most common form of dpn is a symmetrical, predominantly sensory, polyneuropathy with distal onset and slow proximal progression. Monomelic amyotrophy or juvenile non progressive amyotrophy of the upper limb is. Feb 08, 2018 monomelic amyotrophy mma is a rare disease that causes muscle weakness in the upper extremities. The symptoms of mma usually progress slowly for one to two years before reaching a plateau, then remain stable for many years. Monomelic amyotrophy of a lower limb is less frequent than mma of an upper. Descriptive terms such as brachial monomelic amyotrophy mma confined. Monomelic amyotrophy is a rare disorder marked by the progressive loss and degeneration of motor neurons. Bma is usually sporadic, it has an insidious onset and slow progression followed by stabilization in 24 years. 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. Monomelic amyotrophy mma is a benign motor neuron disorder mind in the young with male predominance 1,2.
The most common form of dpn is a symmetrical, predominantly sensory, polyneuropathy with. Nascimento abstract a consecutive series of 21 patients with single limb atrophy monomelic amyotrophy is reported. Specifically, monomelic amyotrophy causes weakness and loss of muscle. Monomelic amyotrophy mma, is a motor neuron disease first described in 1959 in japan. These two conditions are similar in that they include the wasting away of a muscle or limb, but hna is usually. Monomelic medical definition merriamwebster medical. The onset of the disease is insidious, occurring in males before the age of 30 years, with a clinical course marked by nonprogression. Occasionally, the weakness progresses to the opposite limb.
This means that monomelic amyotrophy, or a subtype of monomelic amyotrophy, affects less than 200,000 people in the us population. Weakness of distal muscles of one upper limb which progresses over 1 year and then appears to arrest monomelic amyotrophy has been reported mainly in japan and india. The anterior horn cells showed shrinkage and necrosis, various degrees of degeneration of large and small neurons, and mild gliosis. A 28yearold white man presented with insidiousonset, slowly progressive, unilateral weakness and atrophy of his left. Upper limb proximal form of benign monomelic amyotrophy. Usually sporadic, it usually has an insidious onset with a mean evolution of 2 to 4 years following first clinical manifestations, which is, in turned, followed by stabilization. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement skeletal muscles. Review article nosology of juvenile muscular atrophy of.
Monomelic amyotrophy synonyms, monomelic amyotrophy pronunciation, monomelic amyotrophy translation, english dictionary definition of monomelic amyotrophy. Pdf a consecutive series of 21 patients with single limb atrophy monomelic amyotrophy is reported. Proximal involvement of the arm and shoulder muscles is an unusual presentation that has been rarely reported in the literature. 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. Posterior view showing amyotrophy of the right lower limb. Monomelic amyotrophy is a rare nontreatable musculoskeletal disease. Hirayama disease hd, also interchangeably referred to as monomelic amyotrophy, has been more frequently recognised in the west only in the last two decades. Monomelic amyotrophy treatment with stem cells swiss medica. Monomelic amyotrophy hirayama disease with upper motor.
There are many different conditions that are related to amyotrophy, but the most common two are monomelic amyotrophy mma and hereditary neuralgic amyotrophy hna. 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 may also be known as benign focal amyotrophy, single limb atrophy, hirayama syndrome or sobue disease. Monomelic amyotrophy is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. A case presentation on a patient with the familial form of. Monomelic amyotrophy definition of monomelic amyotrophy by. Longterm followup of monomelic amyotrophy of the upper limb. From 1977 through 1981, we examined 23 patients with singlelimb atrophy. Sixteen had lower limb atrophy and five had upper limb involvement. Monomelic amyotrophy genetic and rare diseases information. Hirayama d isease hd, also interchangeably referred to as monomelic amyotrophy, has been more frequently recognised in the west only in the last two decades.
Monomelic amyotrophy is an uncommon, benign, unilateral disorder of the lower motor neurons, affecting predominantly the hand and forearm muscles. Mma is reported most frequently in asia but has a global distribution. My husband diagnosed with monomelic amyotrophy recently. The symptom information on this page attempts to provide a list of some possible signs and symptoms of monomelic amyotrophy. Monomelic amyotrophy ma, also known as hirayama disease, is a rare, benign lower motor neuron disease. Monomelic amyotrophy of the upper limb or hirayama disease is an anterior horn disorder that is restricted to one upper extremity in the majority but can be bilaterally symmetrical in a minority of cases. Biopsy, hirayama disease, lower limb involvement, lower motor neuron, monomelic. The official parents sourcebook on monomelic amyotrophy.
A 28yearold white man presented with insidiousonset, slowly progressive. Benign monomelic amyotrophy in a 7yearold girl with. Physicians, especially neurologists, should be familiar with this benign condition to avoid inappropriately labeling patients as having amyotrophic lateral sclerosis and other disorders with less favorable outcomes. This disease is characterized by muscle wasting and weakness, affecting predominantly the lower cervical myotomes. Monomelic amyotrophy is a rare clinical entity, resulting in wasting and weakness localized to the hand and forearm unilaterally, in the absence of any sensory or long tract signs. Letters to editor familial monomelic amyotrophy hirayama. Hirayama disease hd, also known as monomelic amyotrophy mma was first reported by hirayama et al. Monomelic definition of monomelic by medical dictionary.
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