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92 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Muscle Biopsy Abnormal

  • Muscular Dystrophy

    This condition is typically characterized by large and abnormally distributed mitochondria on muscle biopsy, which can distinguish this condition from the other muscle conditions[ncbi.nlm.nih.gov] Abstract Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu]

  • Motor Neuron Disease

    The results of electromyography and muscle biopsy were compatible with ALS. However, supranuclear vertical gaze palsy and slow saccades are seen.[ncbi.nlm.nih.gov] 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]

  • Amyotrophic Lateral Sclerosis

    Only about 10% of ALS patients have abnormal nerve conduction study results, but the test can also suggest other diagnoses. A muscle biopsy.[webmd.com] Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[web.archive.org] ) Males symptomatic; slowly progressive bulbar and limb weakness Family history; fasciculations of facial muscles; gynaecomastia; proximal symmetrical weakness in addition[doi.org]

  • Facioscapulohumeral Muscular Dystrophy

    If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.[merckmanuals.com] Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] FSHD affects about one in 20-400,000 people, and no effective therapeutic strategies are known to halt disease progression or reverse muscle weakness or atrophy.[ncbi.nlm.nih.gov]

  • Inclusion Body Myositis

    Muscle biopsy may display several common findings including; inflammatory cells invading muscle cells, vacuolar degeneration, inclusions or plaques of abnormal proteins.[phoenixstemcelltreatmentcenter.com] […] disease of middle-aged , beginning in legs, causing atrophy and weakness of quadriceps, sparing facial and oropharyngeal muscles EMG Abnormal electrical 'irritation', slowing[medical-dictionary.thefreedictionary.com] Muscle biopsy may display several common findings including; inflammatory cells invading muscle cells, vacuolar degeneration, inclusions or plaques of abnormal proteins. sIBM[en.wikipedia.org]

  • Spinal Muscular Atrophy

    Muscle biopsies showed typical signs of neurogenic damage. Molecular genetic analysis showed mutations of the ASAH1 gene.[ncbi.nlm.nih.gov] 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] The muscle biopsy showing atrophic fibers of both types, hypertrophic fibers of one type (usually type I), and in chronic cases type grouping.[doi.org]

  • Adult Spinal Muscular Atrophy

    Muscle biopsy- reveals evidence of devervation with no other structural abnormalities.[en.wikibooks.org] 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] In some situations other tests such as an EMG electromyography (EMG) or muscle biopsy may be needed because it is not possible to conduct the SMN gene tests or no abnormality[genome.gov]

  • Spinal Muscular Atrophy Type 3

    […] is being broken down); distinctive abnormalities on muscle biopsy; characteristic electromyographic and nerve conduction abnormalities; and genetic testing.[healthofchildren.com] 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] In some cases, when the SMN gene test is not possible or does not show any abnormality, other tests such as an EMG electromyography (EMG) or muscle biopsy may be indicated[psychology.wikia.com]

  • Myoadenylate Deaminase Deficiency

    The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov] Muscle biopsy (vastus lateralis) is abnormal even with normal manual strength testing being normal. The disorder is linked to the DM2 locus at chromosome 3q21.[neuroweb.us]

  • Spinal Muscular Atrophy Type 1

    We present a baby with spinal muscular atrophy type 1, an inherited disorder causing progressive weakness, leading to complete paralysis of respiratory, facial and limb muscles[ncbi.nlm.nih.gov] 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] Bulbar muscular atrophy affects the bulbar and facial muscles with motor neurone loss in the brainstem. [ 1 ] The spinal muscular atrophies (SMAs) are a spectrum of genetically[patient.info]

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