Autosomal recessive spastic paraplegia type 70

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ORPHA:401835OMIM:620323G11.4
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8Treatment centers

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Overview

Autosomal recessive spastic paraplegia type 70 (SPG70) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. In SPG70, the disease typically begins in childhood and gradually worsens over time. People with SPG70 experience increasing difficulty walking due to stiffness and weakness in the lower limbs. The condition may also be associated with additional neurological features, including intellectual disability, speech difficulties, and problems with coordination. Some individuals may develop issues with bladder control as the disease progresses. The severity of symptoms can vary between affected individuals, even within the same family. Currently, there is no cure for SPG70. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, stretching exercises, and medications to reduce muscle stiffness (such as baclofen or tizanidine) are commonly used. Assistive devices like braces, walkers, or wheelchairs may become necessary as mobility declines. A multidisciplinary care team involving neurologists, physical therapists, and other specialists is important for comprehensive management.

Also known as:

Key symptoms:

Progressive leg stiffness (spasticity)Difficulty walkingLeg weaknessExaggerated reflexes in the legsIntellectual disabilitySpeech difficultiesProblems with coordination and balanceBladder control problemsFoot deformities such as high arches or curled toesAbnormal gait patternMuscle wasting in the legs

Clinical phenotype terms (10)— hover any for plain English
Abnormal pulmonary interstitial morphologyHP:0006530Abnormal myelinationHP:0012447
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 70.

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No specialists are currently listed for Autosomal recessive spastic paraplegia type 70.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Questions for your doctor

Bring these to your next appointment

  • Q1.How quickly is this condition likely to progress in my child's case?,What therapies are most important to start right away?,Are there any medications that can help with the leg stiffness?,Should we consider genetic counseling for our family?,What school accommodations should we request?,Are there any clinical trials or research studies we could participate in?,How often should we schedule follow-up appointments with the neurology team?

Common questions about Autosomal recessive spastic paraplegia type 70

What is Autosomal recessive spastic paraplegia type 70?

Autosomal recessive spastic paraplegia type 70 (SPG70) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. In SPG70, the disease typically begins in childhood and gradually worsens over time. People with SPG70 experience increasing difficulty walking due to stiffness and weakness in the lower limbs. The condition may also be associated with additional neurological feature

How is Autosomal recessive spastic paraplegia type 70 inherited?

Autosomal recessive spastic paraplegia type 70 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Autosomal recessive spastic paraplegia type 70 typically begin?

Typical onset of Autosomal recessive spastic paraplegia type 70 is childhood. Age of onset can vary across affected individuals.