Signs and symptoms
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Facial onset sensory and motor neuronopathy, often abbreviated FOSMN, is a rare disorder of the nervous system in which sensory and motor nerves of the face and limbs progressively degenerate over a period of months to years. This degenerative process, the cause of which is unknown, eventually results in sensory and motor symptoms — the former consisting mainly of paresthesia followed by numbness, and the latter in muscle weakness, atrophy, and eventual paralysis. In many ways, it is reminiscent of the much better known condition amyotrophic lateral sclerosis , with which it is closely related. There is no cure; treatment is supportive. Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues [1] working at the Massachusetts General Hospital in the United States; subsequent reports from the United Kingdom, [2] Europe and Asia [3] point to a global incidence of the disease. It is thought to be exceptionally rare, with only approximately 100 individuals [4] described to date in the medical literature.[ citation needed ]
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The aetiology of FOSMN is unknown.
In common with many neurological diseases, there is no one 'test' for FOSMN. The diagnosis can be notoriously difficult, mainly on account of its rarity: even expert neurologists experienced in the diagnosis of diseases of the peripheral nervous system may not previously have encountered a case. The principal differential diagnosis to consider is amyotrophic lateral sclerosis or a related motor neurone disorder: the chief distinction between the two is the presence of sensory abnormalities in FOSMN, and their absence in the motor neurone disorders. Diagnostic tests such as nerve conduction studies, electromyography, cerebrospinal fluid analyses, and blood tests can help narrow the diagnostic possibilities and support a clinical diagnosis. [4]
There is currently no cure for FOSMN. Supportive treatment, that enables patients to cope with symptoms, is usually helpful.[ citation needed ]
Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.
Neuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. NMT along with Morvan's syndrome are the most severe types in the Peripheral Nerve Hyperexciteability spectrum. Example of two more common and less severe syndromes in the spectrum are Cramp Fasciculation Syndrome and Benign Fasciculation Syndrome. NMT can have both hereditary and acquired forms. The prevalence of NMT is unknown.
Transverse myelitis (TM) is a rare neurological condition in which the spinal cord is inflamed. Transverse implies that the inflammation extends horizontally across the spinal cord. Partial transverse myelitis and partial myelitis are terms sometimes used to specify inflammation that only affects part of the width of the spinal cord. TM is characterized by weakness and numbness of the limbs, deficits in sensation and motor skills, dysfunctional urethral and anal sphincter activities, and dysfunction of the autonomic nervous system that can lead to episodes of high blood pressure. Signs and symptoms vary according to the affected level of the spinal cord. The underlying cause of TM is unknown. The spinal cord inflammation seen in TM has been associated with various infections, immune system disorders, or damage to nerve fibres, by loss of myelin. As opposed to leukomyelitis which affects only the white matter, it affects the entire cross-section of the spinal cord. Decreased electrical conductivity in the nervous system can result.
Benign fasciculation syndrome (BFS) is characterized by fasciculation (twitching) of voluntary muscles in the body. The twitching can occur in any voluntary muscle group but is most common in the eyelids, arms, hands, fingers, legs, and feet. The tongue can also be affected. The twitching may be occasional to continuous. BFS must be distinguished from other conditions that include muscle twitches.
A fasciculation, or muscle twitch, is a spontaneous, involuntary muscle contraction and relaxation, involving fine muscle fibers. They are common, with as much as 70% of people experiencing them. They can be benign, or associated with more serious conditions. When no cause or pathology is identified, they are diagnosed as benign fasciculation syndrome.
Neuritis is inflammation of a nerve or the general inflammation of the peripheral nervous system. Inflammation, and frequently concomitant demyelination, cause impaired transmission of neural signals and leads to aberrant nerve function. Neuritis is often conflated with neuropathy, a broad term describing any disease process which affects the peripheral nervous system. However, neuropathies may be due to either inflammatory or non-inflammatory causes, and the term encompasses any form of damage, degeneration, or dysfunction, while neuritis refers specifically to the inflammatory process.
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
Neuromuscular disease is a broad term that encompasses many diseases and ailments that impair the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions.
Chronic inflammatory demyelinating polyneuropathy is an acquired autoimmune disease of the peripheral nervous system characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy. CIDP is closely related to Guillain–Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy. It is one of several types of neuropathy.
Progressive muscular atrophy (PMA) is a very rare subtype of motor neuron disease (MND) that affects only the lower motor neurons. PMA is thought to account for around 4% of all MND cases. This is in contrast to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurons, or primary lateral sclerosis, another rare MND variant, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than classic ALS.
Progressive bulbar palsy (PBP) is a medical condition. It belongs to a group of disorders known as motor neuron diseases. PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).
Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's Syndrome, is a rare degenerative disorder often initially characterized by progressive sensorineural deafness.
Madras motor neuron disease is a rare motor neuron disease originating in South India. Two other forms of the disease have been found, Familial Madras Motor Neuron Disease (FMMND) and the variant Madras Motor Neuron Disease (MMNDV). The symptoms of MMND include weakness in the arms and legs, loss of vision, and deafness. Most affected individuals are diagnosed by the age of 15 and occurs at the same frequency in males and females. While the cause of the disease and its origins are not yet known, supportive care is available to individuals affected by the disease.
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron disease. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. Limb-onset ALS begins with weakness in the arms or legs, while bulbar-onset ALS begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure.
A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. There are many recognized neurological disorders, some relatively common, but many rare. They may be assessed by neurological examination, and studied and treated within the specialities of neurology and clinical neuropsychology.
Multifocal motor neuropathy (MMN) is a progressively worsening condition where muscles in the extremities gradually weaken. The disorder, a pure motor neuropathy syndrome, is sometimes mistaken for amyotrophic lateral sclerosis (ALS) because of the similarity in the clinical picture, especially if muscle fasciculations are present. MMN is thought to be autoimmune. It was first described in the mid-1980s.
Facial onset sensory and motor neuronopathy, often abbreviated FOSMN, is an extremely rare disease characterised by sensory and motor loss beginning in the face and spreading to involve an increasingly larger area including the upper arms. Details of the disease, and in particular its aetiology, are currently subject to debate, mainly because FOSMN syndrome is so rare. FOSMN was first described in four patients in 2006 and subsequently in a further six patients but so far, these ten represent the only reported cases.
A functional neurological disorder (FND) is a condition in which patients experience neurological symptoms such as weakness, movement disorders, sensory symptoms and blackouts. Symptoms of functional neurological disorders are clinically recognisable, but are not categorically associated with a definable organic disease. The intended contrast is with an organic brain syndrome, where a physiological cause can be identified. Subsets of functional neurological disorders include functional neurological symptom disorder (FNsD), conversion disorder, and psychogenic movement disorder/non-epileptic seizures. Neurological symptoms which are unexplained by organic disease are common in neurological services, accounting for up to one third of outpatient neurology clinic attendances, and associated with as much self-reported disability and distress as those caused by organic neurological disorders. The diagnosis is made based on positive signs and symptoms in the history and examination during consultation of a neurologist. Physiotherapy is particularly helpful for patients with motor symptoms and tailored cognitive behavioural therapy has the best evidence in patients with dissociative (non-epileptic) attacks.
Monomelic amyotrophy (MMA), is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males. MMA is reported most frequently in Asia but has a global distribution. It is typically marked by insidious onset of muscle atrophy of an upper limb, which plateaus after two to five years from which it neither improves nor worsens. There is no pain or sensory loss associated with MMA. MMA is not believed to be hereditary.
Corticobasal syndrome (CBS) is a rare, progressive atypical Parkinsonism syndrome and is a tauopathy related to frontotemporal dementia. CBS is typically caused by the deposit of tau proteins forming in different areas of the brain.
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