Neonatal thrombocytopenia is a common clinical problem. Thrombocytopenia presenting in the first 72 hours of life is usually secondary to placental insufficiency and caused by reduced platelet production; fortunately most episodes are mild or moderate and resolve spontaneously. Thrombocytopenia presenting after 72[…]
This produces a lower motor neuron pattern characterized by hypotonia, areflexia, muscle atrophy and fasciculations.
Paralysis spread to become generalized, except for the cranial nerves, and by age 16 years, patients were tetraplegic with areflexia, contractures, and scoliosis, and required
Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia/areflexia, and varying degrees of bulbar weakness
No Yes Upper limb, distal Yes Yes Lower limb, proximal Yes Yes Lower limb, distal Yes Yes Muscle atrophy Proximal distal Proximal distal (generalized) Sensory loss Yes No Areflexia
A complete physical examination will then be performed to look for signs of any areflexia, muscle weakness or other classic features of Syringomyelia.
]  Clinical features Often asymptomatic Cape-like distribution (neck, shoulders, arms) of: Dissociated sensory loss Dysthetic pain Muscle atrophy, fasciculations, and areflexia
Areflexia, muscle weakness, and atrophy results, commonly involving the hand intrinsics.
We report four patients who presented acutely areflexia, pure motor deficits without sensory disturbances, multifocal CBs persisting at the same motor nerves on serial electrophysiological
An acute tetraparesis with diffuse areflexia but little or no sensory disturbance was the clinical picture.
There was diffuse areflexia, but no evidence of sensory, autonomic, or cranial nerve dysfunction.
1886â “1935] see under syndrome … Medical dictionary Roussy-LÐ¹vy syndrome — a slowly progressive autosomal dominant disorder in which sensory ataxia is associated with areflexia
Neurological damage may result in absent tendon reflexes (areflexia), some distal sensory loss and decreased excitability of muscles to galvanic and faradic stimulation.
[…] described a familial syndrome characterized by (1) clumsy gait, (2) abnormalities of equilibrium which were evident on standing and more pronounced with eye closure, (3) areflexia
Abstract Miller-Fisher is a rare syndrome of childhood that presents with external ophthalmoplegia, ataxia, and areflexia.
Patient 1 presented 2 weeks after the onset of progressive muscular weakness, which was more marked distally than proximally and was associated with areflexia.
There was a significantly greater incidence of ataxia, areflexia and clinical nerve enlargement in HMSN type III.
[…] disease is characterized by an early-onset (i.e. in childhood) demyelinating neuropathy, and usually manifests as gradual progression of distal weakness, sensory loss, and areflexia
The predominantly motor neuropathy associated with weakness and areflexia in AIP can mimic Guillain-Barré syndrome.  Nerve conduction studies help in differentiating these
Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia
[…] accentuated and lacking in the characteristic quadriceps/deep finger flexor emphasis of s-IBM; almost all patients have sensory signs and symptoms; examination shows diffuse hypo/areflexia
He also suggested that MFS and BBE may belong to the same group of disorders as syndrome of ophthalmoplegia, ataxia and areflexia (SOAA).
Google Scholar  Al-Din A.S.N. : The nosological position of the ophthalmoplegia, ataxia and areflexia syndrome: “The spectrum hypothesis”.
We describe a 27-year-old woman who showed the clinical triad of Fisher syndrome (ophthalmoplegia, ataxia, and areflexia), a disturbance of consciousness, facial diplegia,
The clinical picture comprises a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs.
All patients have slowly progressive sensory ataxia and areflexia with significant limb weakness in a minority (4/18).
Diagnosis of CIDP was based on a progressive or relapsing course of sensorimotor dysfunction over 2 months, with hypo- or areflexia, cerebrospinal fluid with 10 white cells
[…] muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia
[…] years after the Santavouri’s report [ 23 ], Dambska [ 24 ] described the “cerebro-ocular muscular syndrome” on three siblings who manifested with dysmorphic face, hypotonia, areflexia
Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski
This autosomal-recessive neurodegenerative disease is characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, decreased vibration sense, muscular
Although some distinguishable clinical features (such as limb ataxia and lower limb areflexia) were found in our patients, 90-95% of them had extensor plantar response and
Abstract We present a 71 year old woman with predominantly right sided parkinsonism of sudden onset, but without tremor. Magnetic resonance imaging (MRI) depicted lesions affecting the substantia nigra (SN) bilaterally, but more pronounced on the left side. There were no other discernible structural lesions. Using[…]
An areflexia was present in 81.6% of cases.
Miller Fisher syndrome is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia.
Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia.
Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures
Abstract Neurologic features of oculocerebrorenal (Lowe) syndrome include mental retardation, hypotonia, and areflexia.
Lowe oculocerebrorenal syndrome (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, muscular hypotonia, areflexia, mental retardation
It often presents with symptoms that include tingling or numbness (beginning in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes (areflexia
Patients typically present with a gradual and protracted ( 2 month) weakness of both proximal and distal musculature associated with areflexia and sensory changes 3.
Areflexia and sensory disturbances are also common. Patients with GBS usually have albuminocytological dissociation on cerebrospinal fluid (CSF) analysis.
Guillain-Barré syndrome is a life-threatening neurological disorder that presents with rapid ascending paralysis and areflexia.
Guillain-Barré syndrome (GBS) is characterized by rapidly evolving ascending weakness, mild sensory loss, and hyporeflexia or areflexia.
29% of people have these symptoms Motor axonal neuropathy 0007002 Sensory axonal neuropathy 0003390 Percent of people who have these symptoms is not available through HPO Areflexia
[…] rapid, involuntary, oscillatory motion of the eyeball) upper motor neuron slow saccades Azores ( Portugal ) CAG repeat, 14q SCA4 ( PLEKHG4 ) 4th–7th decade (19–72) Decades areflexia
Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs.
Pain is rarely an initial symptom but most patients experience pain during the course of their disease. [ 6 ] Generalised tendon areflexia.
In one study, ankle jerks were absent in 37.5%, and areflexia occurred in 12.5%.
[…] examinations at age 5 revealed a mild atrophy and weakness of the intrinsic muscles of the feet (score 2/5), impaired dorsiflexion of the feet (score 2 3/5), generalized areflexia
[…] chin Weak jaw [ more ] 0000278 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Abnormal heart valve morphology 0001654 Areflexia
Loss of bladder control 0000020 1%-4% of people have these symptoms Malignant hyperthermia 0002047 Percent of people who have these symptoms is not available through HPO Areflexia
X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia
[…] very slow NCV, conduction block with normal amplitude of nerve action potential -prolonged distal latencies, F responses & H reflexes -mostly distal weakness with distal areflexia
Areflexia and fasciculations are found. The disease stabilizes or its evolution slows down after steady progression for up to 2 years.
[…] anti-GM1 seropositive subgroup, immunoglobulin may be more effective. 42 Treatment with IvIG or plasmapheresis does not influence the outcome on Miller Fisher syndrome (ataxia, areflexia
Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and
He had a myopathic face, profound weakness, multiple contractures and areflexia. Creatine kinase was moderately raised.
[…] cry limpness or a tendency to flop difficulty sucking or swallowing accumulation of secretions in the lungs or throat legs that tend to be weaker than the arms hypotonia, areflexia
Format Definition An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
Ataxia, areflexia, and ocular muscle paralyses are also featured in the Fisher syndrome.
Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy.
[…] abnormality of metabolism/homeostasis 58 Very frequent (99-80%) 30 elevated serum creatine phosphokinase 58 Very frequent (99-80%) 31 generalized hypotonia 31 HP:0001290 32 areflexia
[…] to be neuroprotective. 211 Individuals with at least one p.Q292K mutation had later-onset neurologic abnormalities such as mental retardation, expressive language delay, areflexia
Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness
Neurological examination showed a brachial diplegia, distal vibratory, thermic and algic hypoesthesia, deep tendon areflexia in upper limbs.
MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA, MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Classification genetic, neurological Phenotypes Areflexia
Recessive mutations of satellite cell gene ( MEGF10 ) are defined in patients with early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARRD).
Sternocleidomastoid amyotrophy 0012036 Tented upper lip vermilion 0010804 Tibialis atrophy 0011399 Percent of people who have these symptoms is not available through HPO Areflexia
The signs and symptoms of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome may include: Abnormality of metabolism/homeostasis Areflexia Cerebellar atrophy Distal amyotrophy