SPG4

SPG4 (Spastic Paraplegia 4) is a form of Hereditary Spastic Paraplegia (HSP) that is characterized by progressive weakness and spasticity (stiffness) of the legs. SPG4 is the most common form of HSP and is typically inherited in an autosomal dominant manner.

Symptoms[edit | edit source]

The primary symptom of SPG4 is progressive spasticity and weakness of the legs. This typically begins in early adulthood, but can start in childhood or later in life. Other symptoms can include urinary urgency and mild impairment of vibration sense in the lower limbs. In some cases, individuals with SPG4 may also experience a mild decrease in mental function.

Genetics[edit | edit source]

SPG4 is caused by mutations in the SPAST gene, which provides instructions for producing a protein called spastin. This protein is involved in the assembly, maintenance, and function of the cytoskeleton, the structural framework that helps cells maintain their shape and internal organization.

Diagnosis[edit | edit source]

Diagnosis of SPG4 is based on the presence of characteristic symptoms, a family history of the condition, and genetic testing. Magnetic Resonance Imaging (MRI) may also be used to rule out other conditions that can cause similar symptoms.

Treatment[edit | edit source]

There is currently no cure for SPG4. Treatment is focused on managing symptoms and can include physical therapy, medications to manage spasticity, and assistive devices such as canes or walkers.

NIH genetic and rare disease info[edit source]

NIH info on SPG4

SPG4 is a rare disease.

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v t e Hereditary Spastic Paraplegia
General	Spasticity Paraplegia Genetics of Hereditary Spastic Paraplegia Pathophysiology of Hereditary Spastic Paraplegia
Types	Complicated Hereditary Spastic Paraplegia Uncomplicated Hereditary Spastic Paraplegia SPG1 SPG2 SPG3A SPG4 SPG5A SPG7 SPG11 SPG15 SPG31 List of Hereditary Spastic Paraplegia Types
Diagnosis	Genetic Testing for Hereditary Spastic Paraplegia Neuroimaging in Hereditary Spastic Paraplegia Clinical Features of Hereditary Spastic Paraplegia
Treatment and Management	Physical Therapy in Hereditary Spastic Paraplegia Occupational Therapy for Hereditary Spastic Paraplegia Medications for Hereditary Spastic Paraplegia Surgical Interventions in Hereditary Spastic Paraplegia
Research and Future Directions	Gene Therapy for Hereditary Spastic Paraplegia Stem Cell Therapy for Hereditary Spastic Paraplegia Clinical Trials for Hereditary Spastic Paraplegia
This Hereditary Spastic Paraplegia related article is a stub.

v t e Neurological disorders
General	Neurodegeneration Neurodevelopmental disorders Neuroinflammatory disorders Neuromuscular disorders Neurovascular diseases
Diseases	Alzheimer's disease Amyotrophic lateral sclerosis Autism spectrum disorder Cerebral palsy Epilepsy Migraine Multiple sclerosis Parkinson's disease Schizophrenia Stroke Traumatic brain injury
Symptoms and signs	Aphasia Ataxia Confusion Headache Memory loss Neuropathic pain Seizure Tremor Vertigo
Diagnosis and treatment	Brain imaging Cerebrospinal fluid analysis Electroencephalography Lumbar puncture Neurological examination Neurosurgery Physical therapy Speech therapy
Related	Neurology Neuroscience Psychiatry Neurological examination Neuroscientist Neurosurgeon
This neurological disorder-related article is a stub. You can help WikiMD by expanding it.

v t e Rare and genetic diseases
Rare diseases - SPG4
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine