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12 Possible Causes for Presynaptic Defect at the Neuromuscular Junction, Short Stature

  • Smith Lemli Opitz Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making[rarediseases.info.nih.gov] […] dominant [slow channel syndrome]) neuromuscular junction; not associated with antibodies to AChR; symptoms: usually begin in the neonatal period, ocular, bulbar, respiratory[neupsykey.com] dysplasia-epilepsy-short stature syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sodium channelopathy-related small fiber neuropathy Solitary median maxillary[se-atlas.de]

  • Parana Hard-Skin Syndrome

    Diseases related with Short stature and Abnormality of skin pigmentation In the following list you will find some of the most common rare diseases related to Short stature[mendelian.co] Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] stature Decreased body height Small stature [ more ] 0004322 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610[rarediseases.info.nih.gov]

  • Matthew Wood Syndrome

    MONOSOMY 5P Is also known as cri du chat syndrome; deletion 5p Related symptoms: Short stature Microcephaly Scoliosis Hypertelorism Muscular hypotonia SOURCES: ORPHANET UMLS[mendelian.co] Myasthenic Syndromes, Congenital A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION.[bioportfolio.com] Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature.[bredagenetics.com]

  • Short Stature Type Brussels

    Overview Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.[checkorphan.org] junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic.[mendelian.co] Homepage Rare diseases Search Search for a rare disease Short stature, Brussels type Disease definition This syndrome is characterised by short stature presenting in the neonatal[orpha.net]

  • Idiopathic Camptocormia

    Muscle Stiffness and Later with Diplopia 588 Case 96 A Woman with Muscle Cramps and Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short[books.google.de] Botulinum toxin : Botulinum toxin acts by producing chemodenervation and local paralysis in the injected muscle due to presynaptic neuromuscular junction defect.[ijmr.org.in] Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability[books.google.de]

  • Congenital Microcoria

    stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental retardation short stature deafness genital Mental retardation short stature hand[personalizedcause.com] Site of defect and molecular targets at the neuromuscular junction Presynaptic defects ChAT deficiency, SNAP25B deficiency, synaptotagmin-2 deficiency Acetylcholine receptor[scielo.br] CDG2E COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency,[mendelian.co]

  • Slow-Channel Congenital Myasthenic Syndrome

    Muscle Stiffness and Later with Diplopia 588 Case 96 A Woman with Muscle Cramps and Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short[books.google.com] […] by the site of the transmission defect: presynaptic, synaptic, and postsynaptic.[link.springer.com] There are many types of CMS, grouped into three main categories named for the part of the neuromuscular junction that’s affected: presynaptic (the nerve cell), postsynaptic[mda.org]

  • Familial Infantile Myasthenia

    dysplasia-epilepsy-short stature syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sodium channelopathy-related small fiber neuropathy Solitary median maxillary[se-atlas.de] Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com] Muscle Stiffness and Later with Diplopia 588 Case 96 A Woman with Muscle Cramps and Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short[books.google.ro]

  • Congenital Slow-Channel Myasthenic Syndrome Type 4A

    dysplasia [AR] GHR GeneReviews OMIM[genepeeks.com] […] within the neuromuscular junction Presynaptic Synaptic Postsynaptic P.J.[authorstream.com] Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com]

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