What genetic disorder can't walk?

Friedreich's ataxia is an inherited disorder that affects some of the body's nerves. It is caused by a gene defect that is inherited from both parents. Symptoms often begin in late childhood and can include trouble walking, fatigue, changes in sensation, and slowed speech. These tend to get worse over time.
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What is the genetic disorder where you can't walk?

PURA syndrome is an extremely rare genetic disorder that affects the nervous system. It often causes severe mental and physical disabilities and developmental delays, including difficulty feeding, walking and speaking.
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What is the genetic disease that causes paralysis?

Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia).
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What does Rett syndrome look like?

Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time. Breathing problems. These include breath holding, rapid breathing (hyperventilation), forcefully blowing out air or saliva, and swallowing air.
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What is the Kabuki syndrome?

What is Kabuki syndrome? Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems.
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Walking for Individuals with a Rare Genetic Disorder



What is Noonan syndrome?

What is Noonan syndrome? Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability.
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What is the Mowat Wilson syndrome?

Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of ...
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What are the symptoms of Batten's disease?

Most forms of Batten disease cause vision loss, seizures, delayed developmental milestones, behavioral and learning problems, and loss of language and motor skills. Some children with infantile Batten disease also develop microcephaly. Vision loss is often the first symptom and can rapidly progress.
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Is Angelman syndrome inherited?

Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy . These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
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What is the life expectancy of a person with Weaver syndrome?

Prognosis. With appropriate treatment and management, patients with Weaver syndrome appear to do well, both physically and intellectually, throughout their life and have a normal lifespan. Their adult height can reach 7-8 feet.
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What causes Troyer syndrome?

Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the spastic paraplegia gene (SPGP20) located in chromosome 13 that results in loss of the spartin proteins.
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What are the 4 types of paralysis?

There are four types of paralysis — Monoplegia, Hemiplegia, Paraplegia and Quadriplegia.
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What is Monoplegia?

Monoplegia is paralysis limited to a single limb—usually an arm. Occasionally, the paralysis is even further limited, to just a single muscle. Though this can substantially impede function, most people with monoplegia are able to care for themselves, perform daily tasks, and find ways to work around their symptoms.
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Do people with Rett syndrome walk?

(These problems may start out as clumsiness and trouble walking. Although a majority4 of those with Rett Syndrome are still able to walk later in life, others may become unable to sit up or walk or may become immobile.)
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Can Rett syndrome walk?

Although some people with Rett syndrome may retain a degree of hand control, walking ability and communication skills, most will be dependent on 24-hour care throughout their lives.
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What are the early signs of Sanfilippo syndrome?

Signs and symptoms include:
  • delayed speech.
  • behavior problems.
  • certain features of autism spectrum disorder (difficulty with communication and social skills)
  • sleep disturbances.
  • developmental regression.
  • intellectual disability.
  • seizures.
  • movement disorders.
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What is the monkey syndrome in humans?

Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system.
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What is Beckwith Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder, which means it's present at birth. BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar).
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What is Barton's disease?

Bartonellosis is a group of emerging infectious diseases caused by bacteria belonging to the Bartonella genus. Bartonella includes at least 22 named species of bacteria that are mainly transmitted by carriers (vectors), including fleas, lice, or sandflies.
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How common is Williams syndrome?

Williams syndrome is a rare (affecting 1 in 10,000 people) developmental disorder that can affect many parts of the body, including the heart and blood vessels. Children with Williams syndrome have mild to moderate intellectual disability, distinctive facial features, and an outgoing personality.
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What is Kennedy Batten's disease?

Kennedy died at age 16 on May 30, 2014, of the rare neurodegenerative disorder, which affects about one in every 100,000 people in the United States, said Margie Frazier, executive director of the Batten Disease Support and Research Association. Kennedy had juvenile Batten, one of the most common among its 14 forms.
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What is the Kleefstra syndrome?

People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties. Kleefstra syndrome is caused by a mutation in a gene called EHMT1 or the deletion of a specific region of chromosome 9 that includes EHMT1.
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What is Rubinstein Taybi syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.
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What is hemiplegia syndrome?

Hemiplegia refers to severe or complete loss of strength leading to paralysis on one side of the body and is usually the result of brain damage in the cerebral hemisphere, opposite the side of paralysis. Hemiplegia may be caused by several vascular conditions, injuries, infections, and congenital disorders.
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What is hemiplegia in leg?

Weakness on one side of the body is common after a stroke. It is called hemiplegia. If a person has hemiplegia of the leg after stroke and cannot move their leg by themselves, it is important to provide gentle movement of the leg, called “passive range of motion”.
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