The Clinical Spectrum Of Isolated Peripheral Motor Dysfunction
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Pearls & Oy-sters: Episodic ataxia type 2
clinical overlap. Familial hemiplegic migraine is reliably associated with a wide range of missense mutations. 9 In SCA6,aCAGrepeatexpansionintheC-terminusofthe gene is believed to cause cerebellar degeneration. These and other mechanisms of disease in P/Q-type channel dysfunction have been well reviewed previously. 8
Peripheral mitochondrial function correlates with clinical
acterized by a broad spectrum of motor (stiffness, slow-ness, tremor, gait and balance difﬁculties) and nonmotor (cognitive, psychiatric, sleep, alertness, autonomic) distur-bances. The latter may antedate the motor symptoms, worsen as the disease advances, and predominate in caus-ing disability during the later stages of the disease.1 PD
Molecular Genetics and Metabolism
The spectrum of pyruvate dehydrogenase complex deﬁciency: Clinical, biochemical and genetic features in 371 patients Kavi P. Patel a, Thomas W. O'Brien b, Sankarasubramon H. Subramony c, Jonathan Shuster d, Peter W. Stacpoole a,b,⁎
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Facial Palsy in Cerebral Venous Thrombosis
The clinical picture of cerebral venous thrombosis (CVT) is variable, and a wide spectrum of neurological symp-toms has been described.1 5 Cranial nerve palsy in CVT is rare and is often thought to result from cavernous sinus thrombosis or elevated intracranial pressure.2,4 8In the early literature, several cranial nerve syndromes in CVT
RESEARCH Open Access Specific combination of compound
indicating rod dysfunction in the peripheral retina. Pho-topic cone and 30 Hz flicker were also abnormal Table 1 Nerve conduction studies Normal Patient 1 Patient 2 Age at study 12 years 13 years 16 years 13 ½ years MOTOR: Median nerve DML (wrist to APB) < 4.2 3.6 5.4 3.4 CMAP (mV) ≥ 3.9 9.2 4.1 8.6 CV (m/sec) > 47 27 27 33 Ulnar nerve
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VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable.
Functional Movement Assessment - NASMI
Stability dysfunction may include an isolated muscular weakness or joint laxity, but it is frequently more complex and refers to multiple systems that are involved in the complex construct known as motor control. To account for the complexity of a stability problem, the term stability motor control dysfunction is used. Stability motor control
PAPER Recommended diagnostic criteria for paraneoplastic
developed clinical or pathological dysfunction of various parts of the nervous system.10 Subsequent studies showed that these patients may also show involvement of the peripheral nerves or the myenteric plexus indicating that the term encephalomyelitis does not include the full pathological spectrum of the syndrome.1 Although the terms
A Guide To AL (Light hain) Amyloidosis
the heart have isolated cardiac involvement and it is the pres-ence of associated non-cardiac symptoms that will point to a sys-temic disease rather than a purely cardiac pathology. Systemic manifestations include weight loss, easy bruising, brittle and slow-growing nails and periorbital purpura. A subtle change in voice,
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including late-onset LS, NARP, and isolated demyelinating peripheral neuropathy. Another case report referred to a - year-old child presenting a clinical picture of a fulminate onset ataxia, exacerbated muscle fatigue, bilateral ptosis, dysarthric speech, and abnormal breathing that required a
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Plasma cell disorders are associated with a wide spectrum of neurologic complications that predominantly involve the peripheral nervous system. Distinct clinical syndromes have been recognized, and antibodies to several glycoproteins of the peripheral nervous system have been identified.
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noninflammatory entities, and consist of motor, sensory, and autonomic dysfunction. More than half of patients are no longer full ambulatory after 20 years of disease, and overall life expectancy is reduced by 7 14 years (4,5). The MS spectrum includes radiologically isolated syndrome, clinically isolated syndrome,
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the heart have isolated cardiac involvement and it is the pres-ence of associated non-cardiac symptoms that will point to a sys-temic disease rather than a purely cardiac pathology. Systemic manifestations include weight loss, easy bruising, brittle and slow-growing nails and periorbital purpura. A subtle change in
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Mar 08, 2021 clinical protocol for analysis. Results: Cavernous sinus was the commonest anatomical condition of different cranial nerve paralyses and tuberculous disease was the commonest cause in this investigation.7th cranial nerve was the common isolated nerve involved with idiopathic ethology, diabetes was the most common
Infarction in the Territory of Anterior Inferior Cerebellar
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TDP-43 pathologyin familial frontotemporal dementia and motor
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In fact, isolated motor weakness with the complete absence of sensor y involvement has not been described, but if observed in a patient, consideration should be given to other conditions that may produce pure motor weakness, including steroid myopathy which is proximal, diabetic, or paraneoplastic motor neuropathy (Hausheer et al., 2006).
MOEMENT ISORERS Immune-Mediated Cerebellar Ataxias
the lack of proprioceptive information. A clinical syndrome with encephalomyelitis, limbic encephalitis, and peripheral sensory neuropathy is associated with small cell lung cancer (SCLC) and Hu‑antibodies.21 Isolated ataxia is uncommon. At high titer, antiHu conveys an approximately 87% risk of SCLC and other tumors.22
The effect of concomitant peripheral injury on traumatic
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demyelinating peripheral and cranial neuropathy that occurred in the presence of GAD-ab, to our knowledge for the ﬁrst time. MFS is a variant form of Guillain-Barré syndrome with a triad of acute external ophthalmoplegia, ataxia, and are-ﬂexia. Areﬂexia is a clinical sign suggestive of peripheral nervous system involvement.
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10.10a.5 Peripheral motor or sensory nervous system problem 182 10.10a.6 Peripheral neuropathy 10.20 Clinical approach
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such as inattention, motor hyperactivity, and impulsivity, which also cause considerable distress and morbidity. There is considerable indirect evidence for serotoninergic dysfunction in autism spectrum disorders. 1,2,3 Further indirect evi-dence for serotoninergic dysfunction in autism derives from the find-
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Dec 01, 2020 autoimmune demyelinating disease of the peripheral nervous system. Keywords: Autoimmune response, Demyelination, T cell co-stimulation, CD8+ T cells, Animal model Background Guillain-Barré Syndrome (GBS) is an acute immune-mediated polyradiculoneuropathy comprising a broad spectrum of clinical variants, including acute inflammatory
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any signs of motor or speech delay were ever reported. A neurological evaluation was only requested for muscle cramps during adolescence; on that occasion, a suspi-cion of a mitochondrial disease was formulated due to the clinical spectrum of signs, but no imbalance of mitochondrial chain was confirmed.
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clinical and demographic details of subjects published earlier  have also been reproduced here in Table 1. PBMCs were isolated as per Histopaque-1077 (Sigma, USA) datasheet. Briefly, 6.0 ml blood was collected from each subject and layered on equal volume of Histopa-que-1077. It was then centrifuged at 1800 rpm for 30.0
The Clinical Spectrum of Autosomalâ Dominant Episodic Ataxias
Jul 08, 2020 The Clinical Spectrum of EAs Mutations of the potassium channel-encoding gene (KCNA1) result in EA 1, which is characterized by brief attacks of midline cerebellar dysfunction, including limb ataxia, nystagmus, dysar-thria, and tremor.1 The world-wide prevalence is estimated at 1 in 500,000.6 Onset of EA 1 is typically in early childhood.
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of the clinical spectrum of MS or may be isolated syndromes. Optic neuritis usually presents as acute or subacute unilateral eye pain, accentuated by ocular movements and followed by scotomas mainly of the central vision. TM is an acute inflammatory process affecting a focal area of the spinal cord and characterised clinically by acutely
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Paraproteinemic neuropathy: a practical review
Peripheral neuropathy is defined as a disease or degenera-tive state of the peripheral nerves in which motor, sensory, or vasomotor nerve fibers are affected. The condition appears clinically as muscle weakness and atrophy, pain, and numbness . Several monoclonal antibody-producing conditions are associated with peripheral
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Sulfatide levels correlate with severity of neuropathy in
semiovale. Since there was a broad spectrum of motor dysfunction, the children were representative of a cross-sectional sample of the late infantile MLD population in the speciﬁed age range. Table 1. Demographic data, clinical features, and mutations in 13 children with late infantile MLD. Patient ID Gender Age
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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal
Feb 02, 2017 clinical evaluation together with knowledge of the diverse clinical and genetic phenotypes to be able to provide molec-ular genetic diagnoses. 3. SMA Plus Syndromes SMAplus syndromes, oratypical SMA, encompassdisorders in which lower motor neuron dysfunction is the primary but not the sole feature and may be classiﬁed by distinct patterns
Beyond motor neurons: expanding the clinical spectrum in
when motor nerve conduction studies are within the normal range.31 33 Histopathology studies showed atrophy of either the dorsal root ganglion (DRG) neurons or the large myelinated sensory axons in the peripheral nervous system, thus leading to a definition of a primary SBMA sensory neuronopathy.34