• Weakness

  Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. [ncbi.nlm.nih.gov]

  TYPE 4D; CMT4D Description Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness [mendelian.co]

  Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, Harper A, Demmer L. Tan CA, et al. [pubmed.ncbi.nlm.nih.gov]

  Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. [medlineplus.gov]

• Tongue Atrophy

  Tongue atrophy has also been reported. [mendelian.co]

• Muscle Weakness

  Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. [ncbi.nlm.nih.gov]

  weakness Motor delay Peripheral neuropathy Skeletal muscle atrophy Gait disturbance Talipes equinovarus Areflexia Hyporeflexia And another 27 symptoms. [mendelian.co]

• Foot Deformity

  Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. [ncbi.nlm.nih.gov]

• Muscular Atrophy

  Other Names for This Condition Charcot-Marie-Tooth hereditary neuropathy Charcot-Marie-Tooth syndrome CMT Hereditary motor and sensory neuropathy HMSN Peroneal muscular atrophy PMA Additional Information & Resources Genetic and Rare Diseases Information [medlineplus.gov]

  Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. Am. J. Hum. Genet. (2003). doi:10.1086/375039 Mersiyanova, I. V et al. [mda.org]

• Hearing Impairment

  Genes related to Charcot-marie-tooth Disease Type 4d NDRG1 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 4d Hearing impairment Sensorineural hearing impairment Muscle [mendelian.co]

  Gait disturbance Hyporeflexia Onion bulb formation Segmental peripheral demyelination/remyelination Ear malformation Hearing impairment IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide [ncbi.nlm.nih.gov]

• Hyporeflexia

  Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Abnormal auditory evoked potentials Areflexia Axonal loss Decreased nerve conduction velocity Distal sensory impairment Gait disturbance Hyporeflexia [ncbi.nlm.nih.gov]

  […] frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 4d Hearing impairment Sensorineural hearing impairment Muscle weakness Motor delay Peripheral neuropathy Skeletal muscle atrophy Gait disturbance Talipes equinovarus Areflexia Hyporeflexia [mendelian.co]

• Areflexia

  […] the hand Talipes cavus equinovarus Abnormality of the eye Abnormality of visual evoked potentials Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Abnormal auditory evoked potentials Areflexia [ncbi.nlm.nih.gov]

  Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 4d Hearing impairment Sensorineural hearing impairment Muscle weakness Motor delay Peripheral neuropathy Skeletal muscle atrophy Gait disturbance Talipes equinovarus Areflexia [mendelian.co]

• Paresis

  AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS [medlineplus.gov]

  CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology (2010). doi:10.1212/WNL.0b013e3181ffe4bb Ionasescu, V. et al. [mda.org]

• Peripheral Neuropathy

  […] sensory neuropathy, lom type, cmt4d, hmsn4d, charcot-marie-tooth neuropathy, type 4. [mendelian.co]

  Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5). Am. J. Hum. [mda.org]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [medlineplus.gov]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology (2016). doi:10.1159/000443706 Reilly, M. M. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! [mda.org]