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15 Possible Causes for Atrophy of the Small Muscles in the Hand, Optic Disc Pallor, Spastic Dystonia

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Spasticity, more prominent than dystonia, optic atrophy, motor neuropathy, and a slowly progressive course with cognitive decline help to differentiate MPAN from the other[malacards.org] The end stages of MPAN are characterized by severe dementia, spasticity, dystonia, and parkinsonism.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 31

    Small muscles of the hands and feet are often atrophied to some degree. Some patients develop hearing loss of the neurosensory type.[disorders.eyes.arizona.edu] Diseases related with Spasticity and Optic disc pallor In the following list you will find some of the most common rare diseases related to Spasticity and Optic disc pallor[mendelian.co] […] in the limbs and torticollis, spastic dysarthria, ophthalmoplegia, hypometric saccades, slow tongue Borderline TCC and cerebellar atrophy Dopa-responsive dystonia (DRD) is[movementdisorders.org]

  • Hereditary Spastic Paraplegia

    All affected members also presented with clinical features of Silver syndrome showing severe spastic paraplegia and prominent atrophy of all small hand muscles bilaterally[ncbi.nlm.nih.gov] disc pallor, axonal neuropathy, and evidence of vascular lesions, cerebellar atrophy, or cerebral atrophy on cranial magnetic resonance imaging.[dx.doi.org] One previously reported missense mutation c.316G A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand[ncbi.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis

    In affected children, brain cells die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head ( microcephaly ).[ghr.nlm.nih.gov] Early changes include defective macular light reflex and optic disc pallor followed by attenuation of vessels, pigmentary retinal changes, degeneration of macula and optic[ncbi.nlm.nih.gov] Benzodiazepines may help control seizures, anxiety, and spasticity. Trihexyphenydate may improve dystonia and sialorrhea.[ncbi.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis 9

    In affected children, brain cells die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly).[icdlist.com] Fundus showed bilateral optic disc pallor with severe arteriolar attenuation and diffuse pigment mottling.[journals.plos.org] […] and spasticity.[disorders.eyes.arizona.edu]

  • Neuronal Ceroid Lipofuscinosis 3

    In affected children, brain cells die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly).[icdlist.com] Ocular features include Rotary nystagmus Eccentric viewing/overlooking Normal to severe pigmentary retinopathy with optic disc pallor, arteriolar attenuation, peripheral pigmentation[eyewiki.aao.org] Treatment Treatment Options: Treatment is primarily symptomatic for sleep disorders, seizures, psychoses, malnutrition, dystonia and spasticity.[disorders.eyes.arizona.edu]

  • Y-Linked Retinitis pigmentosa

    Small muscles of the hands and feet are often atrophied to some degree. Some patients develop hearing loss of the neurosensory type.[disorders.eyes.arizona.edu] It is known that signs of retinal degeneration (retinal vessel attenuation, optic disc pallor) progress more slowly in RPA than in typical arRP [ 61 ].[molvis.org] 1 Infantile-Onset Ascending Hereditary Spastic Paralysis 1 Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations 1 Infertility[preventiongenetics.com]

  • Pelviscapular Dysplasia

    Cerebral cortical atrophy Decreased testicular size Kyphoscoliosis Osteoporosis Small hand Hypogonadism Congenital cataract Proximal muscle weakness Polyneuropathy Sensory[mendelian.co] […] paraplegia - dystonia 518 Leukoencephalopathy - dystonia - motor neuropathy 519 SCP2 519 DARS2 520 Leukoencephalopathy with brain stem, spinal cord involvement - lactate[research.cchmc.org] Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Early-onset severe retinal dystrophy Early-onset spastic ataxia-neuropathy syndrome Early-onset[csbg.cnb.csic.es]

  • Dystonia with Cerebellar Atrophy (DYTCA)

    Ptosis Constipation Hyperhidrosis Migraine Pallor Gliosis Small hand Parkinsonism Postural instability Epileptic encephalopathy Facial grimacing Vertigo Hypoplasia of the[mendelian.co] In a large Dutch family with LHON, the phenotype additionally included spastic dystonia [ 56 ].[neupsykey.com] disc pallor Loss of consciousness Memory impairment Vestibular dysfunction Myotonia Bulbar signs Ophthalmoparesis Bulbar palsy Focal seizures with impairment of consciousness[mendelian.co]

  • Ataxia - Tapetoretinal Degeneration Syndrome

    Wide nasal bridge Syndactyly Encephalopathy Clinodactyly Small hand Low-set ears Tapered finger Epileptic encephalopathy Generalized-onset seizure Narrow forehead Cerebral[mendelian.co] , temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ( Votruba et al., 1998 ).Some patients with mutations in the OPA1 gene may[mendelian.co] Spasticity, dystonia of the limbs or hypotonia of the trunk noted. [104] Vasculitis in the small vessels noted on skin biopsy of distal lesions from chilblains. [106] Not[autoinflammatory-search.org]

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