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419 Possible Causes for Abnormal Gait, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis

    degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[] Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features.[] Twelve patients had a waddling gait. Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance.[]

  • Mucopolysaccharidosis 1

    Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features.[] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[] Dental abnormalities Pectus carinatum, kyphosis, scoliosis, genu valgum, hypermobile joints Waddling gait with frequent falls Qualitative urine glycosaminoglycan (GAG) analysis[]

  • Mucopolysaccharidosis 2

    , 79% of patients had skeletal manifestations with median onset at 3.5 years and 25% had abnormal gait.[] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[]

  • Kniest Dysplasia

    […] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hip contracture 0003273 Inguinal hernia 0000023 Lumbar kyphoscoliosis 0004619 Malar flattening Zygomatic[] The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[]

  • Congenital Muscular Dystrophy

    Persons affected with RSMD1 experience difficulty walking due to thigh muscle weakness, spinal rigidity, and mild Achilles tendon tightness.[] The eyes presented with severe myopia and retinal dysplasia.[] The symptoms tend to progress slowly and include a loss of fine motor skills and difficulty walking.[]

  • Cockayne Syndrome

    The abnormal gait is due to contractures of the ankles, knees and hips as well as leg spasticity and ataxia.[] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[] A sun-sensitive boy (XP20BE) who had severe symptoms of CS, with dwarfism, microcephaly, retinal degeneration, and mental impairment, had XP-type pigmentation and died at[]

  • Arthritis

    This case report describes the findings of a previously healthy pediatric patient with acute onset of knee swelling and abnormal gait.[] These side effects are serious and can include easy bruising, thinning of the bones (osteoporosis), cataracts, weight gain, a round face, susceptibility to infections, diabetes[] degeneration Leflunomide 20 mg po once/day or, if adverse effects occur, reduced to 10 mg once/day Skin reactions Hepatic dysfunction Alopecia Diarrhea Peripheral neuropathy[]

  • Neuhauser Syndrome

    MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[]

  • Autosomal Recessive Spastic Paraplegia Type 21

    Results: At enrollment, 85 subjects had neurologic gait abnormalities of the following types: unsteady gait (in 31 subjects), frontal gait (in 12 subjects), hemiparetic gait[] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[] SPG15  Kjellin syndrome  Mutation in Gene ZFYVE26  progressive stiffness and increased reflexes in the leg muscles as well as retinal degeneration  Locus 14q24.1 Autosomal[]

  • Parkinson's Disease

    Previous studies have shown that axotomy of retinal ganglion cells in adult rats leads to protracted degeneration that can be delayed by the application of compounds that[] abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia Applies To Parkinsonism or Parkinson's disease: NOS idiopathic primary ICD-9-CM[] These were the hands whose unrivaled speed and precision had left an everlasting impression on the face of boxing. In a moment they might do the same to mine.[]

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