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334 Possible Causes for Erythropoietic Porphyria, Muscle Weakness, Myalgia

  • Acute Hepatic Porphyria

    weakness.[] Possibly or definitely related AEs reported in two or more cases were injection site reactions and myalgia; all of these events were mild.[] porphyria E80.1 Porphyria cutanea tarda E80.2 Other and unspecified porphyria E80.20 Unspecified porphyria E80.21 Acute intermittent (hepatic) porphyria E80.3 Defects of[]

  • Porphyria

    Besides having abdominal and nerve pain, the patient may suffer rapid heartbeat, mania, muscle cramps, muscle weakness, breathing problems, hallucinations, and coma.[] Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[] Other symptoms include: Muscle pain Muscle weakness or paralysis Numbness or tingling Pain in the arms or legs Pain in the back Personality changes Attacks can sometimes be[]

  • Acute Intermittent Porphyria

    weakness.[] There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria[] Her abdominal pain and myalgia subsided on the third day of dialysis. Her lower limb muscle power improved and she became ambulant by the fourth day.[]

  • Erythropoietic Coproporphyria

    weakness, seizure - loss of sensation - hallucination * hereditary coproporphyria and variegate porphyria both have symptoms of cutaneous and acute porphyria.[] Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum. Genet. 53 (1980) 217–221 Google Scholar Doss, M.[] Severe attacks of acute porphyria can sometimes cause nerve damage and muscle weakness that can take months to get better.[]

  • Myoadenylate Deaminase Deficiency

    She had slight muscle weakness in her facial and upper extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions.[] porphyria E80.1 Porphyria cutanea tarda E80.2 Other and unspecified porphyria E80.20 Unspecified porphyria E80.21 Acute intermittent (hepatic) porphyria E80.3 Defects of[] A diagnosis of tension myalgia or myofascial-type pain is often considered when no objective findings are seen in the evaluation.[]

  • Lead Poisoning

    We report a case of total hyperpigmentation of the skin, severe itching, muscle weakness and thrombocytosis.[] In the described case of the death of a 41-year-old-man, no enzymatic disturbances characteristic of congenital erythropoietic porphyria were ascertained, and furthermore,[] Linear regression analysis showed log of BLL was significantly associated with abdominal pain, myalgia and anorexia.[]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Patient 2 was a 26-year-old man who had had cramps on exertion since age 6, but no muscle weakness.[] Porphyria Congenital Erythropoietic Porphyria, Mild, Cutaneous-only Congenital Fast Channel Myasthenic Syndrome Congenital Heart Defects Congenital Heart Disease Heterotaxy[] We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia.[]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    Myopathy is a common finding and is characterized by exercise-intolerance, muscle weakness, cramping, myalgia and episodes of myoglobinuria.[] Porphyria Except Congenital Erythropoietic Porphyria which is autosomal recessive Conditions prefixed “hereditary” or “familial” Hereditary cancer syndromes ‘Gain of function[] Clinical findings include: Muscle pain and weakness Rust-coloured urine after vigorous exercise due to myoglobinuria Other features are rare and highly variable but may include[]

  • Autosomal Dominant Myoglobinuria

    Diseases related with Muscle weakness and Renal insufficiency In the following list you will find some of the most common rare diseases related to Muscle weakness and Renal[] Suite gene sharing: Human phenotypes related to Myoglobinuria, Autosomal Dominant: 33 # Description HPO Frequency HPO Source Accession 1 muscle weakness 33 HP:0001324 2 myalgia[] , Acute Hepatic 2 Porphyria, Congenital Erythropoietic 3 Portal hypertension, noncirrhotic 2 Posterior Column Ataxia With Retinitis Pigmentosa 6 Potassium Aggravated Myotonia[]

  • Distal Myopathy Type 3

    Polyglucosan body myopathy : Late-onset progressive weakness (50s and 60s) affecting proximal limb muscles, increasing distal paresis and only slight weakness of the proximal[] (ADP), Acute intermittent porphyria (AIP), Congenital erythopoietic porphyria (CEP), Erythropoietic protoporphyria (EPP), Hereditary coproporphyria (HCP) Porphyria cutanea[] Organ system Disease Symptoms History Physical Examination Diagnosis Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness[]

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