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hereditary spastic paraplegia 49 (SPG49) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Bilateral tonic-clonic seizure, Gait ataxia, Spastic gait
Head and neck	3	Hypomimic face, Round face, Microcephaly
Muscles	2	Low muscle tone (hypotonia), Brain shrinkage (cerebral atrophy)
Growth and development	1	Short stature
Digestive system	1	Gastroesophageal reflux
Lungs and breathing	1	Central apnea

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID) have been published.

Suggestive Findings

TECPR2-HSAN with ID should be suspected in individuals with the following clinical findings and family history.

Clinical findings

Source: GeneReviews — "TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability"

GeneReviews

Differential Diagnosis

Table 3. Sensory and Autonomic Neuropathies in the Differential Diagnosis of TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

Gene	Disorder1	Key Features	Comment
DST	HSAN6 (OMIM 614653)	Sensory autonomic neuropathy, profound ID w/absent milestones, joint contractures	Unlike TECPR2-HSAN w/ID, HSAN6 is assoc w/poor feeding, joint contractures, tongue papilla, alacrima, absent flare in response to histamine test.
ELP1 (formerly IKBKAP)

Genetic testing for TECPR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 49 has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hereditary spastic paraplegia 49. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Recommendations for clinical management of TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID), including symptomatic treatment and surveillance, have been published . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with TECPR2-HSAN with ID, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

System/Concern	Evaluation	Comment
Neurologic	Thorough neurologic exam w/attn to muscle tone, gait ataxia, hypo-/areflexia, sensitivity to pain	Perform EEG if history suggests seizures.; Brain MRI may be considered (after careful eval of risks of sedation/anesthesia in this patient population).1
Developmental	Perform developmental eval; assess for behavioral dysregulation features of ASD.	Refer for appropriate developmental support, special education, ABA therapy if indicated. Speech
impairment	Speech-language pathologist	Activities of
daily living	Physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)

Source: GeneReviews — "TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability"

Clinical Trials

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations and response to supportive care and to detect new manifestations, see . Table 6. Recommended Surveillance for Individuals with TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

System/Concern	Evaluation	Frequency
Gastroenterology	Gastroenterology eval consultation w/dietician	Every 6 mos Consider swallow study (unless fed by gastrostomy).
Orthopedic	Orthopedic eval to assess for need for supportive devices (such as orthoses) monitor for potential complications such as hip dislocation scoliosis	Every 6 mos Consider spine x-ray.
ENT	ENT eval	In case of snoring or consistent tonsillar enlargement Family/
Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit

Source: GeneReviews — "TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability"

Phenotype severity distribution: 19 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary spastic paraplegia 49.

12 publications have been identified in PubMed for hereditary spastic paraplegia 49. Research spans Epidemiology / Natural History (33%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (17%).

Research Type	Count	% of Total
Disease patterns and progression	4	33%
Research summaries	3	25%
Testing and diagnosis research	2	17%
Patient case studies	2	17%
Laboratory research	1	8%

Recent Publications

Mimori M (2026). [PMID: 41813186](https://pubmed.ncbi.nlm.nih.gov/41813186/). *Rinsho Shinkeigaku*. [Review / Meta-Analysis]
Vaghefi F (2026). [PMID: 42116150](https://pubmed.ncbi.nlm.nih.gov/42116150/). *BMC Med Genomics*. [Review / Meta-Analysis]
Schmidt HJD (2026). [PMID: 41199121](https://pubmed.ncbi.nlm.nih.gov/41199121/). *Ann Clin Transl Neurol*. [Epidemiology / Natural History]
Watanabe K (2025). [PMID: 40841583](https://pubmed.ncbi.nlm.nih.gov/40841583/). *J Hum Genet*. [Case Report / Case Series]
de Vries BS (2025). [PMID: 40388677](https://pubmed.ncbi.nlm.nih.gov/40388677/). *Neurology*. [Diagnostic / Biomarker]
Zhang F (2025). [PMID: 39853345](https://pubmed.ncbi.nlm.nih.gov/39853345/). *Neuroradiology*. [Epidemiology / Natural History]
Paul S (2025). [PMID: 41298403](https://pubmed.ncbi.nlm.nih.gov/41298403/). *Nat Commun*. [Basic Science / Preclinical]
Jeyakumar H (2025). [PMID: 40598191](https://pubmed.ncbi.nlm.nih.gov/40598191/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]
Habibi-Kavashkohie MR (2025). [PMID: 42158309](https://pubmed.ncbi.nlm.nih.gov/42158309/). *Curr J Neurol*. [Review / Meta-Analysis]

Kisho

hereditary spastic paraplegia 49

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

hereditary spastic paraplegia 49

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team