The disease becomes evident in childhood or adolescence with the development of hypotonia, difficulty walking, or intellectual disabilities. [ivami.com]

The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis. [rarediseases.org]

Progressive difficulty walking is the main problem and occurs due to taut and weak muscles. This manifests initially as stumbling, stubbing the toe, catching of the feet on uneven surfaces and sidewalks, clumsy gait, or difficulty with balance. [encyclopedia.com]

CAMP ACADEMIA, INC. Earlychildhood LLC DILLON INSURANCE SERVICES, INC. KIRKMAN ARCHITECTS, INC. MT. HEBRON BAPTIST CHURCH OF RANDOLPH COUNTY, INC. ONE BENEFITS, INC. NOCEANS MEDIA LLC Healing Touch Iyashi, LLC OLDE TOWNE POLICE, INC. SATILLA BLDG. [georgia-register.com]

Fransen E, Van Camp G and Vits L (1997) L1‐associated diseases: clinical geneticists divide, molecular geneticists unite. Human Molecular Genetics 6(10): 1625–1632. [els.net]

Mitochondrion. 2011; 11 :70–5. [ PubMed : 20656066 ] Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome. [ncbi.nlm.nih.gov]

Verde Islands, Egypt, Zimbabwe, Angola, Burundi, Mauritius, Cameroon, Togo, Côte d'Ivoire (Ivory Coast), Eritrea, Mali, Gambia, Niger, Burkina Faso, Morocco, Somalia, Zambia, Benin, Namibia, Paraguay, Falkland Islands (Islas Malvinas), Suriname, Guyana [ebay.ca]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

[…] frequent (99-80%) HP:0001258 3 clonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002169 4 scissor gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407 5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051 6 sensorineural hearing [malacards.org]

impairment or abnormalities with the eyes) rate of progression/degeneration. [hspersunite.org.au]

impairment, elliptocytosis, and nephrocalcinosis 300990 300195 X-linked recessive AMN 14q32.32 Megaloblastic anemia-1, Norwegian type 261100 605799 Autosomal recessive AMPD1 1p13.2 Myopathy due to myoadenylate deaminase deficiency 615511 102770 Autosomal [mnglabs.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

spasticity, difficulty standing Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive Anatomical Context for Spastic Paraplegia 24, Autosomal Recessive Publications for Spastic [malacards.org]

Fitzsimmons Walson Mellor syndrome 0 *Glomerulonephritis, IGA *Hearing Loss, Sensorineural *Intellectual Disability *Muscle Spasticity *Spastic Paraplegia, Hereditary. [reference.md]

One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction. [rarediseases.org]

To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

[…] anomalies, type A, 11 615181 610194 Autosomal recessive B3GALT6 1p36.33 Ehlers-Danlos syndrome, spondylodysplastic type, 2 615349 615291 Autosomal recessive B3GALT6 1p36.33 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [mnglabs.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407 5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051 6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407 7 hyperreflexia 59 Very frequent (99 [malacards.org]

gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407 5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051 6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407 7 hyperreflexia 59 Very frequent (99 [malacards.org]

Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic [malacards.org]

Genes and mapped phenotypes Gene ID: 338090, updated on 8-Apr-2017 Summary Official Symbol SPG24 provided by HGNC Official Full Name spastic paraplegia 24 (autosomal recessive) provided by HGNC Primary source HGNC:HGNC:22993 See related MIM:607584 Gene [ncbi.nlm.nih.gov]

Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. [books.google.com]

spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex hereditary spastic paraplegia Spastic paraplegia type 2 Spastic paraplegia type 7 X-linked complex spastic paraplegia X-linked pure spastic paraplegia X-linked spastic [se-atlas.de]

Spastic paraplegia 12, autosomal dominant 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 11, autosomal recessive 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 10, autosomal dominant 0 *Spastic Paraplegia, Hereditary. [reference.md]

Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia [malacards.org]

Affected individuals may have sensory neuropathy, motor neuropathy, hyperreflexia of the lower limbs, muscular atrophy or decreased bladder control. Rarely, the disease is associated with parkinsonism. [ivami.com]

People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [ghr.nlm.nih.gov]

[…] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia [slideshare.net]

Hyperreflexia and extensor plantar responses are often present. Cognitive deficits are manifest as deficits in attention and higher levels of reasoning. Some patients have a mild peripheral neuropathy with decreased vibratory sense. [disorders.eyes.arizona.edu]

Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia [malacards.org]

Affected individuals may have sensory neuropathy, motor neuropathy, hyperreflexia of the lower limbs, muscular atrophy or decreased bladder control. Rarely, the disease is associated with parkinsonism. [ivami.com]

People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [ghr.nlm.nih.gov]

[…] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia [slideshare.net]

Hyperreflexia and extensor plantar responses are often present. Cognitive deficits are manifest as deficits in attention and higher levels of reasoning. Some patients have a mild peripheral neuropathy with decreased vibratory sense. [disorders.eyes.arizona.edu]

People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [ghr.nlm.nih.gov]

Other ocular signs include supranuclear palsy, ptosis, and nystagmus. Older individuals with advanced disease may have progressive external ophthalmoplegia. [disorders.eyes.arizona.edu]

In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]

Other clinical complications are ataxia (incoordination), dysarthria (difficulty speaking), deafness, nystagmus (involuntary eye movements), decreased functioning of the adrenal glands, and ichthyosis (abnormal dryness, scaling, and thickening of the [encyclopedia.com]

There may be upper limb involvement and nystagmus. Some patients additionally present with parkinsonism or ataxia. [intechopen.com]

Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus [malacards.org]

These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.com]

This can lead to uncontrollable shaking (clonus) of the feet and scissoring of the legs while walking. Often the changes are so slowly progressive that patients do not notice subtle symptoms for several years. [encyclopedia.com]

He had increased reflexes in all limbs with ankles clonus and bilateral extensor plantar reflexes. There was mild wasting in the upper limbs. He reported having mild urinary urgency and painful legs. Ocular pursuit was saccadic. [academic.oup.com]