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
[pediatricneurologybriefs.com]
Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia/areflexia, and varying degrees of bulbar weakness
[amboss.com]
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
[ojrd.biomedcentral.com]
In 1926, Roussy and Lévy described a large family whose members manifested an early onset dominantly inherited gait ataxia, pes cavus, and areflexia, which was eventually
[ncbi.nlm.nih.gov]
[…] 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
[jamanetwork.com]
There was a significantly greater incidence of ataxia, areflexia and clinical nerve enlargement in HMSN type III.
[ncbi.nlm.nih.gov]
[…] 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
[radiopaedia.org]
Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures
[medicalchemy-syndromes.blogspot.com]
Abstract Neurologic features of oculocerebrorenal (Lowe) syndrome include mental retardation, hypotonia, and areflexia.
[doi.org]
Lowe oculocerebrorenal syndrome (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, muscular hypotonia, areflexia, mental retardation
[ncbi.nlm.nih.gov]
[…] are nystagmus and dysarthria UniProtKB/Swiss-Prot : 76 Ataxia-oculomotor apraxia 3: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia
[malacards.org]
Format Definition An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
[uniprot.org]
Other features included impaired ocular movement, severe limb and axial dysmetria, areflexia, mild distal atrophy and global weakness of the legs.
[cags.org.ae]
Hospital; the Lahey Clinic, Burlington, MA; and Ohio State University, report 3 children presenting between ages 9 and 10 years with proximal lower extremity weakness with areflexia
[pediatricneurologybriefs.com]
We report a 73 year-old lady who presented 10 years previously with stiffness of both calves, dry mouth, fatigue, proximal weakness and areflexia in lower limbs.
[ncbi.nlm.nih.gov]
Patients present with proximal muscle weakness and fatigability, often combined with areflexia. Only 5% of reported cases are children.
[ncbi.nlm.nih.gov]
Areflexia and sensorineural deafness can be additional signs and pes cavus eventually appears.
[disorders.eyes.arizona.edu]
Clinical description Other manifestations included floppiness, susceptibility to infections, and later, flaccid tetraplegia and areflexia.
[orpha.net]
[…] onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive External references: 1 OMIM reference - No MeSH references Very frequent - Areflexia
[csbg.cnb.csic.es]
Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction.
[ncbi.nlm.nih.gov]
[…] symptoms is not available through HPO Absence of secondary sex characteristics 0008187 Aggressive behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Areflexia
[rarediseases.info.nih.gov]
[…] of the genitourinary system Ketonuria Primary amenorrhea Abnormality of the musculoskeletal system Muscular atrophy Abnormality of the nervous system Aggressive behavior Areflexia
[ncbi.nlm.nih.gov]
Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski
[ncbi.nlm.nih.gov]
Clinical Significance: Detection of sequence variants of FXN Typical Presentation: Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia
[athenadiagnostics.com]
This autosomal-recessive neurodegenerative disease is characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, decreased vibration sense, muscular
[ncbi.nlm.nih.gov]
MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA, MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Classification genetic, neurological Phenotypes Areflexia
[mousephenotype.org]
Recessive mutations of satellite cell gene ( MEGF10 ) are defined in patients with early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARRD).
[medlink.com]
Sternocleidomastoid amyotrophy 0012036 Tented upper lip vermilion 0010804 Tibialis atrophy 0011399 Percent of people who have these symptoms is not available through HPO Areflexia
[rarediseases.info.nih.gov]
[…] 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
[brainscape.com]
Areflexia and fasciculations are found. The disease stabilizes or its evolution slows down after steady progression for up to 2 years.
[neuroweb.us]
[…] 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
[consultant360.com]
Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction.
[ncbi.nlm.nih.gov]
Charcot-marie-tooth Disease Type 2s Generalized hypotonia Scoliosis Muscle weakness Motor delay Peripheral neuropathy Gait disturbance Talipes equinovarus Respiratory insufficiency Areflexia
[mendelian.co]
Pain is rarely an initial symptom but most patients experience pain during the course of their disease. [ 6 ] Generalised tendon areflexia.
[patient.info]
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
[rarediseases.info.nih.gov]
[…] 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
[rarediseases.info.nih.gov]
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
[icdlist.com]
At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia.
[unboundmedicine.com]
At age 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia.
[jamanetwork.com]
5 (THMD5), Spinocerebellar ataxia-28 (SCA28), autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), Dominant Optic Atrophy (DOA), cerebellar ataxia, areflexia
[brevets-patents.ic.gc.ca]
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
[rarediseases.info.nih.gov]
[…] 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
[en.wikipedia.org]
Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3].
[neurowiki2013.wikidot.com]
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
[books.google.com]
[…] 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
[emedicine.staging.medscape.com]
[…] syndrome Cowden syndrome Cylindrical spirals myopathy DPM3-CDG Dejerine-Sottas syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy-areflexia-respiratory
[se-atlas.de]
There are rare additional myopathies due to mutations in MEGF10 (multiple epidermal growth factor like domains 10), EMARDD (myopathy, areflexia, respiratory distress, and
[brainscape.com]
EMARDD (early-onset myopathy with areflexia, respiratory distress and dysphagia) due to a mutation in multiple epidermal growth factor-like domains 10 ( MEGF10 ); [34] presentation
[misc.medscape.com]
Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness
[amboss.com]
Hypotonia and weakness are usually noted in the newborn period and can be associated with congenital joint contractures and areflexia.
[ncbi.nlm.nih.gov]
IgG antibodies directed against GM1, GD1a, GD1bMiller Fisher syndrome (MFS) Diplopia (usually external ophthalmoplegia), ataxia, areflexia.
[fliphtml5.com]
A complete physical examination will then be performed to look for signs of any areflexia, muscle weakness or other classic features of Syringomyelia.
[epainassist.com]
[…] progressing (similar to central cord syndrome) Cape-like distribution (neck, shoulders, arms) Dissociated sensory loss Dysthetic pain Muscle atrophy, fasciculations, and areflexia
[amboss.com]
Areflexia, muscle weakness, and atrophy results, commonly involving the hand intrinsics.
[medscape.com]
Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and
[ncbi.nlm.nih.gov]
Hyporeflexia refers to below normal or absent reflexes (areflexia). It can be detected through the use of a reflex hammer. It is the opposite of hyperreflexia.
[en.wikipedia.org]
He had a myopathic face, profound weakness, multiple contractures and areflexia. Creatine kinase was moderately raised.
[ncbi.nlm.nih.gov]
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
[ncbi.nlm.nih.gov]
An acute tetraparesis with diffuse areflexia but little or no sensory disturbance was the clinical picture.
[ncbi.nlm.nih.gov]
There was diffuse areflexia, but no evidence of sensory, autonomic, or cranial nerve dysfunction.
[jnnp.bmj.com]
Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction.
[ncbi.nlm.nih.gov]
The disease can also result in distal sensory impairment, areflexia and facial weakness.
[cags.org.ae]
Pes planus Syndactyly Abnormality of the eye Ophthalmoplegia Strabismus Abnormality of the musculoskeletal system Microcephaly Scoliosis Abnormality of the nervous system Areflexia
[ncbi.nlm.nih.gov]
Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction.
[ncbi.nlm.nih.gov]
Hammertoe Limb muscle weakness Pes cavus Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Facial palsy Abnormality of the nervous system Areflexia
[ncbi.nlm.nih.gov]
Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction.
[ncbi.nlm.nih.gov]
[…] system Distal amyotrophy Distal muscle weakness Foot dorsiflexor weakness Kyphoscoliosis Proximal muscle weakness Upper limb muscle weakness Abnormality of the nervous system Areflexia
[ncbi.nlm.nih.gov]
[…] muscle weakness Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Kyphoscoliosis Proximal muscle weakness Abnormality of the nervous system Areflexia
[ncbi.nlm.nih.gov]
[from OMIM] From HPO Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction.
[ncbi.nlm.nih.gov]
[…] polynucleotide kinase 3'-phosphatase Show allHide all Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Areflexia
[ncbi.nlm.nih.gov]
Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Areflexia Decreased motor nerve conduction velocity Distal
[ncbi.nlm.nih.gov]
(Also known as/Synonyms) CAPOS Syndrome Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss What is Cerebellar Ataxia, Areflexia, Pes Cavus, Optic
[dovemed.com]
areflexia - pes cavus - optic atrophy - sensorineural hearing loss; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; DOMINANT OPTIC
[rarediseases.info.nih.gov]
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome.
[en.wikipedia.org]
[…] evoked potentials Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Abnormal auditory evoked potentials Areflexia
[ncbi.nlm.nih.gov]
Type 4d Hearing impairment Sensorineural hearing impairment Muscle weakness Motor delay Peripheral neuropathy Skeletal muscle atrophy Gait disturbance Talipes equinovarus Areflexia
[mendelian.co]
"Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraplegia".
[en.wikipedia.org]
A syndrome of mental retardation, areflexia and paraparesis, Trans. Am. Neurol. Assoc. 97: 242–244.
[link.springer.com]
People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia).
[medlineplus.gov]
Showing of 15 | Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Areflexia Absent tendon reflexes 0001284
[rarediseases.info.nih.gov]
Ankle contracture Abnormality of the musculoskeletal system Ankle contracture Distal arthrogryposis Distal muscle weakness Frequent falls Abnormality of the nervous system Areflexia
[ncbi.nlm.nih.gov]
[…] development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia
[orpha.net]
(areflexia) Inability to sense the orientation of body parts and balance issues (proprioception) Difficulties with balance and proprioception (inability to sense) Decreased
[livingcmt4j.com]