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4,190 Possible Causes for Limb Weakness, Muscle Hypotonia, UDP-GlcNAc Decreased

  • Duchenne Muscular Dystrophy

    And 2) are these gait deviations related to lower limb weakness?[ncbi.nlm.nih.gov] , absent deep tendon reflexes and fasciculations 3 Mildly elevated creatine kinase levels, severe limb contractures present at an early age 4 Acute onset of weakness, hypotonia[orthobullets.com] Abstract Duchenne muscular dystrophy (DMD) is an X-linked form of muscular dystrophy characterized by progressive limb-girdle distribution of muscle weakness.[ncbi.nlm.nih.gov]

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  • Motor Neuron Disease

    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[ncbi.nlm.nih.gov] Loss of lower motor neurons causes denervation atrophy of muscle, manifested by severe hypotonia, weakness, and inability to breathe.[neuropathology-web.org] Symptoms may include hypotonia (severely reduced muscle tone), diminished limb movements, lack of tendon reflexes, fasciculations, tremors, swallowing and feeding difficulties[web.archive.org]

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  • Leigh's Disease

    Exercise intolerance, limb weakness, hearing loss, and diabetes may also precede the occurrence of the stroke-like episodes.[umdf.org] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[ncbi.nlm.nih.gov] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org]

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  • Nemaline Myopathy Type 4

    , neck, and limbs.[malacards.org] The main clinical manifestations include weakness (usually most severe in the face, the neck flexors and the proximal limb muscles), hypotonia and depressed or absent deep[orpha.net] […] affecting lower more than upper limbs as well as facial weakness.[aanem.org]

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  • Glycogen Storage Disease Type 2

    Electromyography may be used initially to distinguish Pompe from other causes of limb weakness.[en.wikipedia.org] […] deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile[icd9data.com] An intermediate form manifests with muscle weakness in childhood. In the adult form, the patient may have limb-girdle weakness.[emedicine.medscape.com]

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  • Adult Spinal Muscular Atrophy

    As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu] The examination may show all the characteristic findings of a lower motor neuron disease, namely absent/decreased reflexes, hypotonia, flaccid paralysis and muscle fasciculations[symptoma.com] weakness, hypotonia Bulbar palsy Late Microcephaly Oculomotor defects: strabismus, nystagmus, oculomotor apraxia Cognitive defects Life expectancy 1 year Diagnostics Genetic[amboss.com]

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  • Spinal Muscular Atrophy

    As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu] The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation[ncbi.nlm.nih.gov] There is a clinical variant of SMA, known as autosomal-dominant spinal muscular atrophy characterized by a predominantly lower limb weakness and muscle wasting.[symptoma.com]

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  • Acute Hepatic Porphyria

    […] muscle weakness, paresis, hydroelectrolytic and psychiatric disorders, tachycardia and choluria.[rbti.org.br] Muscular weakness. Limb pain. Quadriplegia. Pain in limbs. Psychiatric symptoms like psychosis. Anxiety. Skin rash. Blisters on sun-exposed areas.[lecturio.com] The symptoms can include: Belly pain, often severe Chest pain Faster heart rate and higher blood pressure Limb and back pain Muscle weakness Tingling and loss of sensation[webmd.com]

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  • Spinal Muscular Atrophy Type 3

    weakness that resembled muscular dystrophy, but the muscle biopsy and EMG indicated neuronal disease.[jkna.org] They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia).[ispub.com] As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu]

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  • Brachial Plexus Neuropathy

    Fourteen days post-transplant he developed rapidly progressive proximal weakness in both upper limbs.[nature.com] The disease was characterized by repeated attacks of pain in the upper limb/shoulder region, followed by muscle weakness and atrophy.[ncbi.nlm.nih.gov] Brachial plexus neuropathy is a disorder which usually occurs sporadically, and is characterized by pain and varying degrees of weakness in one or both upper limbs.[ncbi.nlm.nih.gov]

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