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Distal Hereditary Motor Neuropathy Type 1

HMN1


Presentation

  • We present a family with autosomal dominant adult onset dHMN type II consisting of fi ve affected individuals spanning three generations. They developed mild symmetrical distal lower limb weakness, muscle wasting, and severe foot… CONTINUE READING[semanticscholar.org]
  • […] juvenile spinal muscular atrophy type 1 dHMN1 Prevalence: - Inheritance: Autosomal dominant Age of onset: Adolescent , Adult , Childhood ICD-10: G12.2 OMIM: 182960 UMLS: C1866784 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Individuals with CMT 3 (Dejerine-Sottas disease) have a primarily demyelinating peripheral neuropathy with a more severe phenotype presenting in infancy.[academlib.com]
  • […] little to no "onion bulb formation" as this is more an axonopathy than myelinating problem; can be wallerian degeneration of the nerves; sensation is lost more than motor skills and hypertrophic nerves are not clinically apparent; in early clinically presenting[pathologyoutlines.com]
  • Present in 0.1 % of dbSNP137, 1000 genomes and/or ESP 2. and/or present in 1 internal controls 3.[tidsskriftet.no]
Infertility
  • Siddurim Soulmates & Marriage Stories (English) Talmud Study Aids Tanach and Nach Commentaries (English) Tehillim Torah (Bible) Women (English) Zemiros and Bircas Hamazon Books in HEBREW Kabalah Mishna Mussar Assorted Hebrew Books Biography Books on Infertility[alef-to-tav.com]
Splenomegaly
  • The presence of lymphadenopathy, hepatomegaly or splenomegaly, and skin lesions may provide evidence of systemic disease. Pale transverse bands in the nail beds, parallel to the lunula (Mees' lines), suggest arsenic poisoning.[aafp.org]
Aniridia
  • […] ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Antenatal multiminicore disease with arthrogryposis multiplex congenita Aortic arch anomaly-facial dysmorphism-intellectual[se-atlas.de]
Petechiae
  • Hereditary Neuropathies associated with skin manifestations  Amyloidosis :Petechiae or purpura  Refsum: Ichthyosis  Sensory neuronopathies: Ulcers  Coproporphyria: Skin photosensitivity,  Fabry: Angiokeratoma 54.[slideshare.net]
Torticollis
  • Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis[en.wikipedia.org]
  • Benign infantile seizures associated with mild gastroenteritis Benign nocturnal alternating hemiplegia of childhood Benign non-familial infantile seizures Benign occipital epilepsy Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis[se-atlas.de]
Osteoporosis
  • Orofaciodigital syndrome type 6 Oromandibular dystonia Ossification anomalies-psychomotor developmental delay syndrome Osteopenia-intellectual disability-sparse hair syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteoporosis-pseudoglioma[se-atlas.de]
Impulsivity
  • Maintaining proper axon diameter is essential for the efficient transmission of nerve impulses. The function of heat shock protein beta-8 is not well understood, but studies have shown that it interacts with heat shock protein beta-1.[ghr.nlm.nih.gov]
  • Nerve conduction studies measure the size and the speed of conduction of an electrical impulse through a nerve and can reveal nerve damage in both sensory and motor nerves.[rarediseases.org]
Limb Weakness
  • They developed mild symmetrical distal lower limb weakness, muscle wasting, and severe foot… CONTINUE READING[semanticscholar.org]
  • weakness and atrophy between the second and fourth decades of life.[genecards.org]
  • In advanced stages, individuals may need powered mobility because of hand/upper limb weakness. Promote strengthening and use of proximal muscle in exercise and recreation.[now.aapmr.org]
  • Interestingly, proximal lower limb and distal upper limb weakness were only observed in patients with disease duration of more than 20 years. No patients showed proximal muscle weakness of upper limbs.[nature.com]

Workup

  • Nerve conduction studies may be more expeditiously carried out on an affected FIGURE 18.13 Progressive cavus foot deformities with clawing of the toes on CMT. parent to guide the molecular genetic workup of an affected child.[academlib.com]
  • Clinical Testing and Workup Nerve conduction studies (NCS) and electromyography (EMG) are very useful.[rarediseases.org]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.de]
  • HMN1_HUMAN,P0CJ68 UniProtKB/Swiss-Prot Induction: Down-regulated 6 hours following staurosporine (STS) treatment and up-regulated 24 hours following STS treatment. Down-regulated 6 hours following beta-carotene treatment.[genecards.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • TREATMENT FOR HEREDITAY MOTOR AND SENSORY NEUROPATHY There is not any proper treatment in allopathy, to get relief from this disease physical therapy, stretching, braces and orthopedic surgeries to prevent injuries and deformities.[blog.drvikram.com]
  • The supportive treatment is generally provided by a multidisciplinary team including neurologists, orthopedic surgeons, physical and occupational therapists; with treatment choices limited to physical therapy, the use of orthotics, surgical treatment[bcbst.com]

Prognosis

  • […] based on the type of mutations and underlying factors HMSN varies; form with Dejerine Sottas has a poor prognosis; CMT1 has minimal impact on survival Treatment Therapy is aimed at the underlying etiology SMA III may require physical therapy ALS is generally[pathologyoutlines.com]
  • Parents should talk to their own or their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • CMT in pregnancy increases the risk for complications during delivery and a higher risk of intervention. [ 11 ] Prognosis This is dependent on subtype; clinical impairment and disability correlate with axonal loss: Most patients with CMT1A have normal[patient.info]
  • Prognosis If patients with HSN I receive appropriate counselling and treatment, the prognosis is good. Early treatment of foot infections may avoid serious complications. Also the complications are manageable, allowing an acceptable quality of life.[ojrd.biomedcentral.com]
  • A specific genetic diagnosis can provide patients and their relatives with information about prognosis and recurrence risk and may be relevant to future gene-specific therapies ( 17, 22 ).[tidsskriftet.no]

Etiology

  • Definition / general Neurogenic type atrophy is a descriptive diagnosis that has multiple different etiologies; underlying etiology generally cannot be further elucidated by the muscle biopsy itself and needs clinicopathologic or radiologic correlation[pathologyoutlines.com]
  • Diabetes and alcoholism are the most common etiologies of peripheral neuropathy in adults living in developed countries.[aafp.org]
  • Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation.[now.aapmr.org]
  • Although the separation of neuronal and nonneuronal forms is an important etiologic and pathogenic distinction, it is noteworthy that even in HMSN1, the clinical deficits appear to correlate better with progressive axonal degeneration than slowed nerve[medlink.com]
  • Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ.[nature.com]

Epidemiology

  • Relevant External Links for FBXO38 Genetic Association Database (GAD) FBXO38 Human Genome Epidemiology (HuGE) Navigator FBXO38 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FBXO38 No data available for Genatlas for FBXO38 Gene A dominant[genecards.org]
  • Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016. 46 (3):157-65. [Medline]. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR.[emedicine.medscape.com]
  • Atrophic myofibers with myofiber type grouping (groups of myofibers of the same histochemical type) No / minimal inflammation Terminology No specific terminology Skeletal muscle with neurogenic atrophy Skeletal muscle with features of neurogenic atrophy Epidemiology[pathologyoutlines.com]
  • Epidemiology It is the most common inherited neuromuscular disorder affecting 1 in 2,500 people. [ 1 ] It has no predilection for a particular race or sex.[patient.info]
  • Epidemiology Hereditary sensory neuropathy type I (HSN I) constitutes a clinically and genetically heterogenous group of disorders of low prevalence. No detailed epidemiological data are currently available.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively[mayomedicallaboratories.com]
  • 2500 to 1 in 1214 in Scandinavian countries Sites Muscle biopsy can be obtained from the more distal muscles depending on the disease process and the muscle that is affected Generally, distal is more affected than proximal in many of these disorders Pathophysiology[pathologyoutlines.com]
  • Pathophysiology Although peripheral neuropathy has multiple etiologies, the nerve has a limited number of ways to respond to injury. 4, 5 The damage can occur at the level of the axon (i.e., axonopathy).[aafp.org]
  • Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ.[nature.com]
  • Pathophysiology CMT1A The extra PMP22 gene copy within the 1.5 mB duplication on chromosome 17 is believed to cause most cases. [12] PMP22 is a 160 amino acid integral membrane protein that is expressed at high levels in myelinating Schwann cells, localizing[emedicine.medscape.com]

Prevention

  • The prevention of HNPP manifestations can be accomplished by wearing protective padding (e.g., elbow or knee pads) to prevent trauma to nerves during activity.[bcbst.com]
  • The NCARDRS helps scientists look for better ways to prevent and treat CMT. You can opt out of the register at any time. Page last reviewed: 18/02/2019 Next review due: 18/02/2022[nhs.uk]
  • Primary prevention is genetic counseling.[now.aapmr.org]
  • Weakened ankles can be treated with orthotics, but special care (e.g. sleeves, etc.) may be necessary to prevent skin abrasion. Genetic counseling may be of benefit for affected individuals and their families.[rarediseases.org]
  • TREATMENT FOR HEREDITAY MOTOR AND SENSORY NEUROPATHY There is not any proper treatment in allopathy, to get relief from this disease physical therapy, stretching, braces and orthopedic surgeries to prevent injuries and deformities.[blog.drvikram.com]

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