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Neuropathy, hereditary sensory, type 1D(HSN1D)

MedGen UID:
462322
Concept ID:
C3150972
Disease or Syndrome
Synonyms: HSN1D; NEUROPATHY, HEREDITARY SENSORY, TYPE ID
 
Gene (location): ATL1 (14q22.1)
 
Monarch Initiative: MONDO:0013381
OMIM®: 613708

Disease characteristics

Excerpted from the GeneReview: Spastic Paraplegia 3A
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare. [from GeneReviews]
Authors:
Peter Hedera   view full author information

Additional description

From OMIM
Autosomal dominant hereditary sensory neuropathy type 1D (HSN1D) is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).  http://www.omim.org/entry/613708

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Autoamputation of digits
MedGen UID:
343770
Concept ID:
C1852289
Finding
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Peripheral axonal neuropathy
MedGen UID:
266071
Concept ID:
C1263857
Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Distal sensory impairment of all modalities
MedGen UID:
322937
Concept ID:
C1836527
Finding
Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Distal lower limb amyotrophy
MedGen UID:
324515
Concept ID:
C1836451
Disease or Syndrome
Muscular atrophy of distal leg muscles.
Osteomyelitis
MedGen UID:
10497
Concept ID:
C0029443
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

Recent clinical studies

Diagnosis

Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V
J Peripher Nerv Syst 2023 Sep;28(3):359-367. Epub 2023 Jun 18 doi: 10.1111/jns.12572. PMID: 37306961
Fusco C, Spagnoli C, Salerno GG, Pavlidis E, Frattini D, Pisani F, Bassi MT
Acta Biomed 2019 Jan 24;90(1):104-107. doi: 10.23750/abm.v90i1.6951. PMID: 30889162Free PMC Article

Clinical prediction guides

Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V
J Peripher Nerv Syst 2023 Sep;28(3):359-367. Epub 2023 Jun 18 doi: 10.1111/jns.12572. PMID: 37306961

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