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366 Possible Causes for Brisk Reflexes, Limb Weakness, Myopathy

  • Limb-Girdle Muscular Dystrophy

    Patients usually have brisk reflexes (as they have thyrotoxicosis ). The creatinine kinase is often normal on an investigation.[] Limb-girdle muscular dystrophies (LGMD) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle[] For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.[]

  • Adult Spinal Muscular Atrophy

    All patients exhibited proximal weakness with amyotrophy, fasciculations, slow progression disease with hypoactive deep tendon reflex, except two patients with brisk reflex[] As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[] Over the years, patients labeled earlier as SMA have had their diagnoses revised to more treatable conditions including syringomyelia, amyotrophic lateral sclerosis, myopathy[]

  • Myopathy

    A 47-year-old man with liver cirrhosis developed limb weakness after liver transplantation.[] Muscle stretch reflexes are usually preserved and often brisk.[] Toxic myopathies – alcohol, corticosteroids, narcotics, colchicines, chloroquine Critical illness myopathy Metabolic myopathies Paraneoplastic myopathy Because different[]

  • Distal Myopathy

    […] and lower limb weakness.[] : Brisk, including jaw jerk Lower motor neuron signs Atrophy Weakness: Patterns not well described Respiratory failure Progression: Variable Respiratory failure Death: 1 to[] myopathy locus.[]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases.[] Patients usually have brisk reflexes (as they have thyrotoxicosis ). The creatinine kinase is often normal on an investigation.[] Acquired myopathies can be subclassified as inflammatory myopathies, toxic myopathies, and myopathies associated with systemic conditions.[]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    Patients usually have brisk reflexes (as they have thyrotoxicosis ). The creatinine kinase is often normal on an investigation.[] In a 57-year-old patient with asymmetric limb girdle weakness, we detected a novel homozygous intronic mutation (IVS1 2T C) of the CAV3 gene.[] The AR distal muscular dystrophies originally included two subgroups, Miyoshi myopathy, characterized mainly by extremely elevated serum creatine kinase (CK) activity and[]

  • Motor Neuron Disease

    He had tongue fasciculations, brisk reflexes and extensor plantar. After supportive electrophysiological studies he was diagnosed as Amyotrophic lateral sclerosis.[] Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients[] INTRODUCTION: Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal[]

  • Neuromuscular Junction Disorder

    A score of 2 is for a normal response, while a 0 indicates no reflex, and a 3 or 4 indicate an abnormally brisk (overactive) reflex.[] Limb weakness develops later on in the disease.[] Hyperthyroid myopathy Myotonia congenita Myotubular myopathy Nemaline myopathy Paramyotonia congenita Periodic paralysis-hypokalemic-hyperkalemic[]

  • Leigh's Disease

    Exercise intolerance, limb weakness, hearing loss, and diabetes may also precede the occurrence of the stroke-like episodes.[] Two brothers presented in early infancy with progressive neurological symptoms of hypotonia, delayed milestones and brisk reflexes.[] The electron microscopic findings of muscle biopsy are suggestive of pleoconial mitochondrial myopathy.[]

  • Multifocal Motor Neuropathy

    reflexes at the knees or ankles or spasticity in the limbs there is no difficulty speaking or swallowing there are no sensory deficits there is evidence of focal areas of[] Multifocal motor neuropathy is a disorder characterized by slowly progressive asymmetrical limb weakness and multiple motor conduction blocks.[] 遠位型ミオパチー Distal Myopathy 遠位型ミオパチー 1 不要 有 HPS2971 HPS2972 HPS2973 HPS2974 HPS2975 HPS2976 Distal Myopathy, DMRV / GNE myopathy 遠位型ミオパチー、縁取り空胞を伴う遠位型ミオパチー(GNE遺伝子変異) 1 不要 有 HPS1436[]

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