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182 Possible Causes for Facial Muscle Rigidity, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov] Diagnosis Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome. [1] The other symptoms include[wikiwand.com]

    Missing: Facial Muscle Rigidity
  • Progressive Supranuclear Palsy

    […] expression, resulting from rigid facial muscles When to see a doctor Make an appointment with your doctor if you experience signs and symptoms of progressive supranuclear[mayoclinic.org] Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Obvious facial signs may be present with examples including decreased blink rate and a “startled” facial expression, which results from rigid facial muscles, but these signs[bcm.edu]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Parkinson's Disease

    A progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements, and a mask-like facial[icd9data.com] , and lack of postural reflexes A progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary[icd9data.com] Parkinson's Disease is a progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements[patientslikeme.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Parkinson's Disease Type 3

    […] volume after starting to speak loudly, slurring speech, stiffness or rigidity of the muscles in the trunk that may result in neck or back pain, stooped posture, stooped posture[parkinsonsdisease.net] As in Parkinson’s, many common symptoms may develop, including tremor; muscle rigidity or stiffness of the limbs; gradual loss of spontaneous movement, often leading to decreased[aans.org] Symptoms of PD in stage two may include the loss of facial expression on both sides of the face, decreased blinking, speech abnormalities , soft voice, monotone voice, fading[parkinsonsdisease.net]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Parkinson-Dementia Syndrome

    A progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements, and a mask-like facial[icd10data.com] , flexed posture, shuffling gait, muscle jerks or twitches, reduced arm swing, a tendency to fall, balance problems, and lack of facial expression.[caregiver.org] Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial[icd10data.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Juvenile Paralysis Agitans of Hunt

    […] paralysis or palsy (pôl zē), complete loss or impairment of the ability to use voluntary muscles, usually as the result of a disorder of the nervous system. The nervous tissue that is injured may be in the brain, the spinal cord, or in the muscles themselves. Accordingly there may be general paralysis, involvement of[…][encyclopedia2.thefreedictionary.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Postencephalitic Parkinson Disease

    Post-encephalitic Parkinsonism is a disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. Historically, starting in 1917 an epidemic of encephalitis lethargica, also called von Economo’s encephalitis or[…][en.wikipedia.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Classic Progressive Supranuclear Palsy Syndrome

    Obvious facial signs may be present with examples including decreased blink rate and a “startled” facial expression, which results from rigid facial muscles, but these signs[bcm.edu] Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Variants of least three other genes ( STX6, EIF2AK3, and MOBP ) are associated with an increased the risk of developing PSP.[rarediseases.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Multiple Epiphyseal Dysplasia with Miniepiphyses

    Congenital contracture Juvenile onset Flat acetabular roof Limb undergrowth Limb muscle weakness Distal muscle weakness Facial palsy Thoracic hypoplasia Bowing of the legs[mendelian.co] Mutations in the EIF2AK3 gene have been identified. OMIM: 226980 Date introduced: August 25, 2010 Select item 68004838 14.[ncbi.nlm.nih.gov] Hypoplastic ilia Kyphoscoliosis Flat face Increased connective tissue Decreased pulmonary function Restricted neck movement due to contractures Achilles tendon contracture Spinal rigidity[mendelian.co]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Hypoaldosteronism

    A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[ncbi.nlm.nih.gov] A homozygous mutation in EIF2AK3 gene confirmed the clinical diagnosis of WRS. She was euthyroid on L -thyroxine therapy.[abstracts.eurospe.org]

    Missing: Facial Muscle Rigidity Onset of Renal Dysfunction in Early Childhood