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35 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Porencephaly

  • Motor Neuron Disease

    Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[web.archive.org] Progressive bulbar palsy , also called progressive bulbar atrophy, involves the brain stem—the bulb-shaped region containing lower motor neurons needed for swallowing, speaking[ninds.nih.gov] Progressive bulbar palsy, also called progressive bulbar atrophy, involves the brain stem—the bulb-shaped region containing lower motor neurons needed for swallowing, speaking[web.archive.org]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    porencephaly Glycogen storage disease due to liver phosphorylase kinase deficiency Hepatic veno-occlusive disease - immunodeficiency Hereditary nonpolyposis colon cancer[csbg.cnb.csic.es] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] […] afibrinogenemia Familial dysfibrinogenemia Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial isolated dilated cardiomyopathy Familial multinodular goiter Familial[csbg.cnb.csic.es]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    TSEN54 Pontocerebellar hypoplasia type 6 RARS2 Pontocerebellar hypoplasia type 8 CHMP1A Pontocerebellar hypoplasia, type 9 AMPD2 Pontocerebellar hypoplasia, type 10 CLP1 Porencephaly[centogene.com] weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] porencephaly Congenital laryngeal palsy Acrofrontofacionasal dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial[checkrare.com]

  • Distal Hereditary Motor Neuropathy Type 1

    […] cardiomyopathy Familial mesial temporal lobe epilepsy with febrile seizures Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial partial epilepsy Familial[se-atlas.de] weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] Aarskog-Scott syndrome Aase-Smith syndrome Abetalipoproteinemia Aceruloplasminemia Acetazolamide-responsive myotonia Acquired ataxia Acquired motor neuron disease Acquired porencephaly[se-atlas.de]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    […] cardiomyopathy Familial mesial temporal lobe epilepsy with febrile seizures Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial partial epilepsy Familial[se-atlas.de] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    […] cardiomyopathy Familial mesial temporal lobe epilepsy with febrile seizures Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial partial epilepsy Familial[se-atlas.de] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M

    porencephaly Familial porphyria cutanea tarda Familial restrictive cardiomyopathy 1 Familial restrictive cardiomyopathy 3 Fanconi anemia, complementation group A Fanconi[pentacorelab.hu] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] […] hypertrophic cardiomyopathy 6 Familial hypertrophic cardiomyopathy 7 Familial hypertrophic cardiomyopathy 8 Familial infantile myasthenia Familial medullary thyroid carcinoma Familial[pentacorelab.hu]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1F

    Myopathy, distal, Tateyama type, Rippling muscle disease 2 AD/AR 23 50 COL4A1 Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly[blueprintgenetics.com] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles.[rarediseases.info.nih.gov]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    Myopathy, distal, Tateyama type, Rippling muscle disease 2 AD/AR 23 50 COL4A1 Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly[blueprintgenetics.com] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] Facial weakness, hand weakness, and contractures are uncommon. Progression is slow, and walking is retained. Cardiac and respiratory function is normal.[emedicine.medscape.com]

  • Congenital Myopathy with Excess of Thin Filaments

    porencephaly Rare developmental defect during embryogenesis Rare neurologic disease 1 4 0 Oculootodental syndrome Rare developmental defect during embryogenesis Rare odontologic[mousebook.org] Over time, muscle weakness progresses to proximal muscle groups.[genecards.org] […] hyperreninemic hypoaldosteronism type 1 Rare endocrine disease 2 0 0 Dentin dysplasia type II Rare odontologic disease 1 0 0 Dentin dysplasia type I Rare odontologic disease 1 0 0 Familial[mousebook.org]

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