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103 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Onset: Infancy to Young Adulthood

  • Muscular Dystrophy

    Abstract Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later.[ninds.nih.gov] Some children with MD die in infancy while others live into adulthood with only moderate disability. What research is being done?[web.archive.org]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    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 atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness in early infancy[ncbi.nlm.nih.gov] Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical[ncbi.nlm.nih.gov]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    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] DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 Prevalence: Inheritance: X-linked recessive Age of onset: Adolescent , Adult , Infancy[orpha.net] Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy[csbg.cnb.csic.es]

  • Distal Spinal Muscular Atrophy Type 3

    DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 Prevalence: Inheritance: X-linked recessive Age of onset: Adolescent , Adult , Infancy[orpha.net] 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] They may present with muscle weakness in early infancy.[explainmedicine.com]

  • Spinal Muscular Atrophy Type 1

    Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy.[ncbi.nlm.nih.gov] 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]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    In 4 of the 5 patients having a severe phenotype, symptoms appeared during infancy (2 to 3.5 years), with proximal muscle weakness predominating in the lower limbs and early[pediatricneurologybriefs.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] Patients typically present during infancy or early childhood with progressive weakness, hypotonia , muscle atrophy , hyporeflexia/areflexia, and varying degrees of bulbar[amboss.com]

  • Progressive Bulbar Palsy

    Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[secure.ssa.gov] Symptoms may appear at any time and the age of onset varies from infancy to adulthood.[facialpalsy.org.uk] The age of onset of the initial symptoms reportedly ranges from infancy to the third decade of life. [11] The hearing loss is usually followed by other symptoms, including[emedicine.medscape.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C4

    […] genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy[csbg.cnb.csic.es] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] Limb-girdle muscular dystrophy type 2M is characterized by onset of muscle weakness in the limbs in infancy, which is slowly progressive.[sema4genomics.com]

  • Limb-Girdle Muscular Dystrophy Type 2L

    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] […] to childhood unknown POMK MDDGA12, MDDGC12 infancy to childhood unknown POMT1 MDDGA1, MDDGB1, MDDGC1 (LGMD2K) infancy to childhood unknown POMT2 MDDGA2, MDDGB2, MDDGC2 (LGMD2N[invitae.com] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy Type 1E

    […] disease but can present in early adult life with proximal weakness and only minor CNS abnormalities POMGn T1 LGMD 2O Usually presents in infancy as Walker Warburg syndrome[jcdr.net] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] […] to childhood unknown POMK MDDGA12, MDDGC12 infancy to childhood unknown POMT1 MDDGA1, MDDGB1, MDDGC1 (LGMD2K) infancy to childhood unknown POMT2 MDDGA2, MDDGB2, MDDGC2 (LGMD2N[invitae.com]

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