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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[emedicine.medscape.com] Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features.[genedx.com] Twelve patients had a waddling gait. Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

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

  • Mucopolysaccharidosis 2

    , 79% of patients had skeletal manifestations with median onset at 3.5 years and 25% had abnormal gait.[actamedicaphilippina.com.ph] […] 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[ncbi.nlm.nih.gov] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com]

  • Kniest Dysplasia

    […] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hip contracture 0003273 Inguinal hernia 0000023 Lumbar kyphoscoliosis 0004619 Malar flattening Zygomatic[rarediseases.info.nih.gov] The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[symptoma.com] 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[zfin.org]

  • Congenital Muscular Dystrophy

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

  • Cockayne Syndrome

    The abnormal gait is due to contractures of the ankles, knees and hips as well as leg spasticity and ataxia.[symptoma.com] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] 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[ncbi.nlm.nih.gov]

  • Arthritis

    This case report describes the findings of a previously healthy pediatric patient with acute onset of knee swelling and abnormal gait.[ncbi.nlm.nih.gov] 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[orthop.washington.edu] 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[merckmanuals.com]

  • Neuhauser Syndrome

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

  • 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[freethesaurus.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] 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[slideshare.net]

  • 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[ncbi.nlm.nih.gov] 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[icd9data.com] 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.[web.archive.org]

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