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Distal Hereditary Motor Neuropathy Type 2

Distal Spinal Muscular Atrophy Type 2


  • The documents contained in this web site are presented for information purposes only. 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]
  • Creatine kinase will be elevated. [2] Congenital Myopathies They may present at birth with marked weakness, hypotonia, external ophthalmoplegia and respiratory failure.[explainmedicine.com]
  • 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]
  • It presents with a triad of symptoms: hearing loss, sensory neuropathy, and cognitive decline (dementia) but it can also present with only one or two of triad.[rarediseases.org]
  • […] 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]
  • 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]
Difficulty Walking
  • The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course.[genecards.org]
  • Muscle weakness can cause weak ankles and eventually progress to difficulty walking (gait disturbances). Some older affected individuals (e.g. those in their 60s or 70s) may eventually require a wheelchair.[rarediseases.org]
  • Patients may experience difficulty walking or running, often tripping. Pressure palsies are common. Spinal deformities (eg, thoracic scoliosis) occur in 37-50% of patients with CMT1.[patient.info]
Short Stature
  • Pulmonary: laryngeal dysfunction is characteristic of CMT2c due to alterations in TRPV4 (transient receptor potential cation channel subfamily V member 4, which is also associated with short stature and musculoskeletal anomalies in some cases); sleep[now.aapmr.org]
  • This can lead to symptoms such as excessive sweating, an irregular rate or rhythm of the heart ( cardiac arrhythmia), constipation, bladder incontinence and a reduced response to pain.[smasupportuk.org.uk]
  • Hereditary Neuropathies associated with skin manifestations  Amyloidosis :Petechiae or purpura  Refsum: Ichthyosis  Sensory neuronopathies: Ulcers  Coproporphyria: Skin photosensitivity,  Fabry: Angiokeratoma 54.[slideshare.net]
Onset in Adolescence
  • LATE ADOLESCENCE/ ADULTHOOD (adult-onset) LATE ADOLESCENCE/ADULTHOOD (adult-onset) 1,2,4 Highest motor milestone achieved ALL Life expectancy (untreated SMA) NORMAL Clinical characteristics Physical symptoms are similar to late-onset SMA, with the gradual[togetherinsma-hcp.com]
  • Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy[en.wikipedia.org]
  • Type II (also known as Dubowitz disease) Clinical characteristics Bulbar weakness with swallowing difficulties that may lead to poor weight gain Weak intercostal muscles Diaphragmatic breathing Difficulty coughing and clearing tracheal secretion Fine tremors[togetherinsma-hcp.com]
  • […] the arms Muscle aching Joint overuse symptoms Late adolescence/adulthood (adult-onset) Highest motor milestone achieved ALL Characteristics Physical symptoms are similar to juvenile-onset spinal muscular atrophy, with the gradual onset of weakness, tremors[togetherinsma.com]
  • I–VII de E hlers–Danlos-Syndrom Typen I–VII Familial e rythrocytosis F abry disease Familial adenomatous polyposis ( FAP ) and attenuated FAP (AFAP) F ibrodysplasia ossificans progressiva F ragile X mental retardation syndrome, fragile X-associated tremor[gfhev.de]
  • […] different types: I - infantile onset, has hypotonia with sparing of the diaphragm; patients usually succumb to respiratory infections around ages 1-2 II - onset 6-12 months of age, able to sit but not stand / walk unaided, symmetrical weakness, hand tremor[pathologyoutlines.com]
Spastic Gait
  • We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient. Key Words: BSCL2, Distal hereditary motor neuropathy, Exome[jkna.org]
  • Small-fiber neuropathies often present with burning pain, lightning-like or lancinating pain, aching, or uncomfortable paresthesias (dysesthesias).[aafp.org]


  • He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[books.google.com]
  • 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]
  • 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]
  • But treatments can help relieve symptoms, aid mobility, and increase independence and quality of life for people with the condition.[nhs.uk]
  • Treatment Treatment Options: The widespread and debilitating polyneuropathy requires a multidisciplinary management approach with neurologists, physical and occupational therapists, audiologists, pain specialists, and orthopedists.[disorders.eyes.arizona.edu]


  • 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]
  • […] 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]
  • The wide range of disease severity and the overlapping of many signs can make pedigree construction and the determination of recurrence risks and prognosis challenging. The only recourse may be genotyping.[disorders.eyes.arizona.edu]
  • 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]


  • 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]
  • However, a twin study reported that psoriasis, T2DM, and obesity are strongly associated in adults after taking key confounding factors, indicating a common genetic etiology for psoriasis and obesity. [28] And cohort studies and meta-analyses support[journals.lww.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]


  • 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


  • 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]


  • 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]
  • Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing an accurate picture of associated symptoms and prognosis[rarediseases.org]
  • Daily heel-stretching exercises prevent Achilles tendon shortening. Interventions designed to improve posture and balance may also be helpful.[patient.info]

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