Autosomal dominant spastic paraplegia type 73

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ORPHA:444099OMIM:616282G11.4
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8Treatment centers

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Overview

Autosomal dominant spastic paraplegia type 73 (also called SPG73 or hereditary spastic paraplegia type 73) is a rare inherited neurological condition that mainly affects the nerves controlling movement in the legs. It belongs to a large family of conditions called hereditary spastic paraplegias (HSPs), which share the common feature of progressive leg stiffness and weakness. In SPG73, a change (mutation) in the CPT1C gene disrupts how nerve cells in the spinal cord function and survive over time. This leads to the gradual breakdown of the long nerve fibers that carry movement signals from the brain down to the legs. The main symptoms include slowly worsening stiffness and weakness in the legs, difficulty walking, and problems with balance. Some people also experience mild changes in thinking or memory, and a few may have additional neurological features. Symptoms usually begin in adulthood, though the age of onset can vary even within the same family. The condition tends to progress slowly, and many people remain able to walk for decades after diagnosis. There is currently no cure for SPG73. Treatment focuses on managing symptoms, improving quality of life, and maintaining mobility for as long as possible. Physical therapy, muscle relaxant medications, and assistive devices such as walking aids are the main tools used. A team of specialists including neurologists and physical therapists typically guides care.

Also known as:

Key symptoms:

Progressive leg stiffness (spasticity)Leg muscle weaknessDifficulty walking or changes in walking style (gait problems)Balance problems and increased risk of fallsOveractive reflexes in the legsMuscle cramps or spasms in the legsMild cognitive or memory difficulties in some peopleBladder urgency or difficulty controlling urination in some casesFatigue with physical activity

Clinical phenotype terms (19)— hover any for plain English
Degeneration of the lateral corticospinal tractsHP:0002314Progressive spastic paraparesisHP:0007199Abnormal lower-limb motor evoked potentialsHP:0012898Abnormal cerebrospinal fluid morphologyHP:0002921
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal dominant spastic paraplegia type 73.

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No actively recruiting trials found for Autosomal dominant spastic paraplegia type 73 at this time.

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No specialists are currently listed for Autosomal dominant spastic paraplegia type 73.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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

No travel grants are currently matched to Autosomal dominant spastic paraplegia type 73.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic testing do you recommend to confirm my diagnosis, and should my family members be tested?,How quickly do you expect my symptoms to progress, and what signs should prompt me to come back sooner?,What medications or therapies do you recommend to manage my leg stiffness, and what are the side effects?,Should I see a physical therapist regularly, and what type of exercise program is safe for me?,Are there any clinical trials or research studies I might be eligible to join?,What home modifications or assistive devices should I consider now or in the future?,Are there any other specialists I should see as part of my care team?

Common questions about Autosomal dominant spastic paraplegia type 73

What is Autosomal dominant spastic paraplegia type 73?

Autosomal dominant spastic paraplegia type 73 (also called SPG73 or hereditary spastic paraplegia type 73) is a rare inherited neurological condition that mainly affects the nerves controlling movement in the legs. It belongs to a large family of conditions called hereditary spastic paraplegias (HSPs), which share the common feature of progressive leg stiffness and weakness. In SPG73, a change (mutation) in the CPT1C gene disrupts how nerve cells in the spinal cord function and survive over time. This leads to the gradual breakdown of the long nerve fibers that carry movement signals from the

How is Autosomal dominant spastic paraplegia type 73 inherited?

Autosomal dominant spastic paraplegia type 73 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Autosomal dominant spastic paraplegia type 73 typically begin?

Typical onset of Autosomal dominant spastic paraplegia type 73 is adult. Age of onset can vary across affected individuals.