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43 Possible Causes for Muscular Atrophy, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Tay-Sachs Disease

    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] atrophy.[ncbi.nlm.nih.gov] 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]

  • Congenital Muscular Dystrophy

    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] The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy[ncbi.nlm.nih.gov] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Myoadenylate Deaminase Deficiency

    The diagnoses in the 13 patients were: polyneuropathy (n 5), infantile spinal muscular atrophy (n 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy[ncbi.nlm.nih.gov] 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]

  • Hallervorden-Spatz Syndrome

    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] atrophy.[ncbi.nlm.nih.gov] atrophy (axonal type) (hypertrophic type), Roussy-Lévy syndrome Collagen VI-related Myopathie ( 2 Files ) Disease name : Collagen VI-related myopathy ICD 10: G71 Synonyms[orphananesthesia.eu]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    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] Treatment for spinal muscular atrophy Unfortunately, there is currently no specific treatment for SMA.[betterhealth.vic.gov.au] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.com]

  • Friedreich Ataxia

    Most affected people become wheelchair dependent by the second or third decade of life.[web.archive.org] atrophy, Dr.[sciencedaily.com] […] and dysequlibrium syndrome CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Charlevoix-Saguenay spastic[rgd.mcw.edu]

  • Limb-Girdle Muscular Dystrophy Type 2J

    ATROPHIES & MOTOR NEURON DISEASES Spinal muscular atrophy, type I-IV (SMN1) Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB) Spinal muscular atrophy[meduniwien.ac.at] 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]

  • Limb-Girdle Muscular Dystrophy Type 1E

    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] ATROPHIES & MOTOR NEURON DISEASES Spinal muscular atrophy, type I-IV (SMN1) Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB) Spinal muscular atrophy[meduniwien.ac.at] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    . : «Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy». J. Neurol.[jmunozy.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]

  • Congenital Muscular Dystrophy Type 1D

    […] form, SMA 4, Spinal muscular atrophy 4, Spinal muscular atrophy, proximal, adult, autosomal recessive, Adult-onset spinal muscular atrophy Spinal muscular atrophy with respiratory[rarediseases.info.nih.gov] 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]

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