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20 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Speech and Language Abnormalities

  • Motor Neuron Disease

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

  • 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.[] […] jaw, and speech and language disorders.[] 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[]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Reduced maximal inspiratory pressure Growth delay Delayed speech and language development Carious teeth Intrauterine growth retardation Myopia Renal insufficiency Dystonia[] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[] Fatigue Brachycephaly Hyperkeratosis Elevated hepatic transaminase Hyperlordosis Attention deficit hyperactivity disorder Abnormality of the liver Abnormality of movement[]

  • Limb-Girdle Muscular Dystrophy Type 1G

    […] jaw, and speech and language disorders.[] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[] Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large[]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Symptoms include pharyngeal muscle weakness (muscles that are involved in swallowing), weak facial muscles, progressive loss of speech, and tongue muscle atrophy.[] A man of 42 years of age presented with UMN LMN signs as- sociated with dementia and language-speech abnormalities (his mother had died at 67 years old with a diagnosis of[] Progressive muscular atrophy is another form, in which there is only lower motor neurone damage, causing weakness and wasting of muscles.[]

  • Myotonic Dystrophy

    Language function is generally preserved in patients with adult DM1 [ 12 , 16 ], although speech abnormalities (dysartria) due to facial weakness or tongue/jaw muscle myotonia[] Clinical Presentation: Variable, progressive disability; facial and distal limb muscle weakness with myotonia; cataracts; cardiac conduction defects; diabetes mellitus; and[] The clinical course led progressively to major disability with severe proximal weakness and atrophy and, later on, distal weakness, atrophy and neck extensor weakness responsible[]

  • Spastic Ataxia with Congenital Miosis

    15 yo patient, progressive muscle weakness, facial weakness, hand grip myotonia (delayed relaxation).[] Craniofacial dystonia Neurodegeneration Progressive cerebellar ataxia Falls Mental deterioration Delayed speech and language development Progressive extrapyramidal movement[] Comorbidities include arrhythmias, cataracts, balding, testicular atrophy/infertility. Dx? Inheritance pattern?[]

  • Zebra Body Myopathy

    […] of the central nervous system Deposits immunoreactive to beta-amyloid protein Seizures Global developmental delay Microcephaly Cataract Spasticity Delayed speech and language[] Over time, the muscle weakness progressed to other proximal muscle groups.[] Alacrima Asymmetric growth Abnormality of the liver Attention deficit hyperactivity disorder Exophoria Hepatomegaly Ranula Alzheimer disease Muscle fiber atrophy Morphological abnormality[]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    speech and language development Hepatomegaly Spontaneous esophageal perforation Gastroparesis Malnutrition Abdominal distention Abdominal pain Abnormality of metabolism/homeostasis[] PEO6 DNA2 AD PEO w/variable, slowly progressive features; onset: childhood-adulthood Slender build Facial muscle weakness; exertional dyspnea; obstructive sleep apnea; myopathy[] […] steatosis EMG abnormality Chest pain Hypothyroidism Hypertonia Hypolipidemia Vitamin D deficiency Vertical supranuclear gaze palsy Fat malabsorption Steatorrhea Slurred speech[]

  • Ophthalmoplegia

    Doctors observed no light-near dissociation, diplopia, nystagmus, abnormal eye movements, visual field deficits, abnormal cranial nerves, dysphagia, language and speech disorders[] […] external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure[] , spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech).[]

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