Create issue ticket

10 Possible Causes for Distal Limb Muscle Atrophy due to Peripheral Neuropathy, Hypomyelination

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[ncbi.nlm.nih.gov] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[ncbi.nlm.nih.gov] A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[ncbi.nlm.nih.gov]

  • Hereditary Areflexic Dystasia

    In contrast to the findings in younger patients, in their nerve biopsies, myelin thickness tended to be relatively reduced for axon size, indicating remyelination and/or hypomyelination[doi.org] […] can also cause other forms of CMT (Charcot-Marie-Tooth type 1 and 2, Dejerine–Sottas neuropathy, hereditary neuropathy with liability to pressure palsies, and congenital hypomyelinating[rarediseases.info.nih.gov] […] axonal neuropathy (Gigaxonin) CMT 3 (PMP22, MPZ, PRX, ERG2) CMT 4 ( GDAP1 , MTM2, MTM13, SH3TC2, NDRG1, ERG2, PRX, HK1, FDG4, FIG4) CMTX 2 (Xp22.2) CMTX 4 (AIFM1) Congenital hypomyelination[neuromuscular.wustl.edu]

  • Distal Hereditary Motor Neuropathy Type 5

    DI-CMTB AD 19p12–p13.2 DYN2 DI-CMTC AD 1p34–p35 YARS RI-CMT AR 1p36.31 PLEKHG5 CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22 AD 1q21[mhmedical.com] A – D, MR images of the lumbosacral spine in a patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org] MTMR2 (recessive) Onset before 3yr age with delayed motor development, severe Weakness, atrophy, and sensory loss Congenital Hypomyelinating Neuropathy (CHN) PMP22, MPZ (dominant[slideshare.net]

  • Hereditary Spastic Paraplegia

    […] leukodystrophy; hereditary lymphedema HEXA Hexosaminidase A deficiency HSPD1 SPG13 MitCHAP-60 disease (hypomyelinating leukodystrophy) IBA57 * SPG74 KDM5C MRXSCJ X-linked[invitae.com] AD/AR 24 54 HACE1 Spastic paraplegia and psychomotor retardation with or without seizures AR 10 11 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 4 4 IBA57[blueprintgenetics.com] Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010;133:2971-2982. [ Links ] . Tezenas du Montcel S, Charles P, Goizet C, et al.[scielo.br]

  • X-Linked Spastic Paraplegia Type 34

    Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.com] […] nervous system]; Distal limb muscle weakness due to peripheral neuropathy; Distal limb muscle atrophy due to peripheral neuropathy; Hyporeflexia; Distal sensory impairment[genome.jp] AD/AR 26 57 HACE1 Spastic paraplegia and psychomotor retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57[blueprintgenetics.com]

  • Distal Hereditary Motor Neuropathy Type 7A

    DI-CMTB AD 19p12–p13.2 DYN2 DI-CMTC AD 1p34–p35 YARS RI-CMT AR 1p36.31 PLEKHG5 CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22 AD 1q21[mhmedical.com] […] neuropathy (with hypotonia at birth) and congenital hypomyelination neuropathy, life expectancy may be only a few months Essential features Atrophic myofibers with myofiber[pathologyoutlines.com] A – D, MR images of the lumbosacral spine in a patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org]

  • Limb-Girdle Muscular Dystrophy Type 1H

    […] abnormality Decreased LDL cholesterol concentration Esophagitis Focal seizures Esotropia Apraxia Athetosis Lower limb spasticity Heterogeneous Truncal ataxia Amblyopia CNS hypomyelination[mendelian.co] […] by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy.[mendelian.co] Astley-Kendall dysplasia [ ] Astroblastoma [ ] Astrocytic tumor [ ] Astrocytoma [ ] Asymmetric crying facies [ ] Ataxia-deafness-retardation syndrome [ ] Ataxia - delayed dentition - hypomyelination[wikicure.wikia.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C12

    @article{Renesse2014POMKMI, title {POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual[semanticscholar.org] […] weakness due to peripheral neuropathy; Distal limb muscle atrophy due to peripheral neuropathy; Difficulty walking; Difficulty with hand grip; Tremor (in some patients); Hyporeflexia[findzebra.com] (PMID: 23519211) Jae LT … Brummelkamp TR (Science (New York, N.Y.) 2013) 2 3 4 60 POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination[genecards.org]

  • Wieacker-Wolff Syndrome

    […] leukodystrophy with or without oligondontia and/or hypogonadism Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelination with atrophy of[se-atlas.de] muscle weakness Distal sensory impairment Respiratory insufficiency due to muscle weakness Peripheral axonal neuropathy Respiratory insufficiency Sensory impairment Narrow[mendelian.co] […] neuropathy-arthrogryposis syndrome Hypomyelination-congenital cataract syndrome Hypophosphatasia Hypophosphatemic rickets Hypoplastic tibiae-postaxial polydactyly syndrome[se-atlas.de]

  • Autosomal Dominant Centronuclear Myopathy

    MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com] neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy.[mendelian.co] Top matches: Low match CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral[mendelian.co]

Further symptoms

Similar symptoms