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