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72 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Limb Weakness, Neonatal Hypotonia

  • Spinal Muscular Atrophy

    […] birth in the neonates.[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] As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu]

  • 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] Symptoms include tremors of the hands, muscle cramps, limb weakness, and twitching.[healthline.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]

  • Muscular Dystrophy

    CMs are rare, but they are important because they cause neonatal hypotonia.[neuropathology-web.org] Abstract Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing[kennedykrieger.org]

  • Myotonic Dystrophy

    With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age.[ncbi.nlm.nih.gov] Clinical Presentation: Variable, progressive disability; facial and distal limb muscle weakness with myotonia; cataracts; cardiac conduction defects; diabetes mellitus; and[ajnr.org] Patient-reported perceived changes (worse/stable) in balance, walking, lower-limb weakness, stair-climbing and hand weakness were used as criteria.[ncbi.nlm.nih.gov]

  • Motor Neuron Disease

    SMA1 must be distinguished from other causes of neonatal hypotonia which include CNS malformations, metabolic diseases, infections, and congenital myopathies.[neuropathology-web.org] Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[web.archive.org] Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy Type 3

    Sometimes onset is prenatal and presents with neonatal hypotonia and contractures.[genetics4medics.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] weakness that resembled muscular dystrophy, but the muscle biopsy and EMG indicated neuronal disease.[jkna.org]

  • Facioscapulohumeral Muscular Dystrophy

    This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness.[ncbi.nlm.nih.gov] Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] FSHD presentation with foot drop or lower limb proximal weakness appeared to be more frequent than expected.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    SMA1 must be distinguished from other causes of neonatal hypotonia which include CNS malformations, metabolic diseases, infections, and congenital myopathies.[neuropathology-web.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 family A the pathological findings and the clinical presentation with symmetrical proximal limb weakness show similarities with autosomal dominant SMA.[link.springer.com]

  • Limb-Girdle Muscular Dystrophy Type 2B

    For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] 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] A 25-year-old woman was admitted to our department as the limb weakness progressively worsened.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1E

    CMs are rare, but they are important because they cause neonatal hypotonia.[neuropathology-web.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases.[ncbi.nlm.nih.gov]

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