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19 Possible Causes for Difficulty Climbing Stairs, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Limb-Girdle Muscular Dystrophy Type 1E

    LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk.[mdfgauteng.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de]

  • Hallervorden-Spatz Syndrome

    stairs.[streetdirectory.com] There is an early onset classic form with symptoms of extrapyramidal disease beginning in the first decade of life and rapid progression to loss of ambulation in about 15[disorders.eyes.arizona.edu] Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing[streetdirectory.com]

  • Limb-Girdle Muscular Dystrophy Type 2J

    LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk.[mdfgauteng.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de]

  • Muscular Dystrophy-Dystroglycanopathy Type C9

    LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk.[mdfgauteng.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk.[mdfgauteng.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

  • Tay-Sachs Disease

    Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints.[ncbi.nlm.nih.gov] Late-onset Tay-Sachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life. 4 A juvenile form is also[doi.org] The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot.[ncbi.nlm.nih.gov]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Difficulty in rising from low chairs and climbing stairs. Excessive fatigue when walking.[patient.info] Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[emedicine.medscape.com] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.com]

  • Congenital Muscular Dystrophy

    Shortly afterward he began to walk on tiptoe, difficulty climbing stairs, running and jumping.[pepsic.bvsalud.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    Symptoms usually relate to motor difficulties and may include: excessive falling or clumsiness delayed milestones difficulty getting up from the floor difficulty climbing[clevelandclinic.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Retardation, and Distinctive Facial Features 1 Cleidocranial Dysostosis 2 COACH Syndrome 2 Cockayne Syndrome Type I 2 Cockayne Syndrome, Type B 2 Coenzyme Q10 Deficiency[preventiongenetics.com]

  • Myoadenylate Deaminase Deficiency

    The relief of the proximal limb muscles was slightly reduced and signs of muscle weakness were apparent (difficulties in climbing stairs and in elevating his arms).[anesthesiology.pubs.asahq.org] Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood[ncbi.nlm.nih.gov]

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