Health and Fitness

Costeff syndrome Overview Costeff syndrome, also known as 3-methylglutaconic aciduria type III, is a rare inherited metabolic and neuro-ophthalmological disorder characterized by early-onset vision loss due to optic nerve degeneration, followed later by movement difficulties. Symptoms Vision Symptoms • Optic atrophy: Worsening vision and loss of visual acuity starting in infancy or early childhood. • Nystagmus: Fast, involuntary eye movements. • Strabismus: Eyes that do not line up or look in the same direction. Movement and Neurological Symptoms • Chorea: Involuntary, unpredictable body movements starting in late childhood. • Ataxia: Poor muscle control and balance issues. • Spasticity: Stiff muscles and tight reflexes (spastic paraparesis) that can worsen over time. • Delayed milestones: Late walking or delayed motor skill development. • Dysarthria : Difficulty speaking clearly. Other Signs • Cognitive impact: Many individuals have normal intelligence, though some experience mi...

Tyrosine Hydroxylase Deficiency Overview Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder characterized by a wide spectrum of symptoms. These symptoms can vary widely in people who are affected, and even among members of the same family. Common symptoms include an uncoordinated manner of walking (abnormal gait) and dystonia. Dystonia is a general term describing involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). In THD, dystonia usually affects the legs, but can include other parts of the body (generalized dystonia). Additional symptoms may include a tendency to walk on tiptoes, difficulty walking, tremors, eye abnormalities, muscle weakness (hypotonia) and intellectual disability. However, there are fewer than 100 case reports of individuals with THD in the medical literature, so it is difficult to predict all the features of the disorder. THD is caused by changes (mutations) in the TH gene. This ge...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Overview Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited neurodegenerative disorder that affects balance, muscle control, and peripheral nerves ARSACS is a neuromuscular condition characterized by the progressive degeneration of the cerebellum and spinal cord. Symptoms ARSACS is defined by three main clinical features: Cerebellar ataxia: Balance and coordination problems, leading to a clumsy or wide-based gait, frequent falls, and poor coordination in the arms and hands. Spasticity: Abnormal, progressive muscle stiffness and tensing, which usually affects the legs more severely over time. Sensorimotor polyneuropathy: Reduced sensation, weakness, and numbness in the arms and legs due to damage to the peripheral nerves Musculoskeletal changes: Distal muscle wasting (amyotrophy) in the hands and feet, foot deformities such as high arches (pes cavus), and spinal curvature (scoliosis...

Spastic Paraplegia Type 49 Overview The first symptom of spastic paraplegia type 49 is typically weak muscle tone (hypotonia) that starts in infancy. The spasticity and paraplegia gradually worsen over time during childhood, leading to difficulty walking and frequent falls. Affected individuals may also have intellectual disability and distinctive physical features, including short stature, chubbiness, and smaller head size (microcephaly). There is currently no specific treatment to prevent or reverse progressive disability in patients with spastic paraplegia. This condition is caused by pathogenic (disease-causing) variants in the TECPR2 gene. Additionally, spastic paraplegia type 49 exhibits autosomal recessive inheritance, meaning both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish- Bukharian descent have a carrier freque...

Troyer syndrome Overview Troyer syndrome is a rare, complex form of hereditary spastic paraplegia characterized by progressive muscle stiffness and weakness in the lower limbs, developmental delays, and muscle wasting A complex hereditary spastic paraplegia (HSP) that causes the slow degeneration of motor neurons and muscle cells. Symptoms Leg Problems: Progressive muscle stiffness (spasticity), weakness, and wasting in the legs, leading to difficulty walking, permanent leg shortening (contractures), and often the need for assistive devices or a wheelchair later in life. Developmental Delays : Delays in learning to walk and talk during childhood. Speech and Swallowing Issues: Speech difficulties (dysarthria), pseudobulbar palsy (trouble controlling facial muscles, chewing, and swallowing), and trouble managing oral secretions or drooling. Hand Weakness: Muscle wasting and weakness in the hands (distal amyotrophy). Physical Stature: Short stature and subtle skeletal abnormalities, su...

Spinocerebellar ataxia type 3 (SCA3) Overview               Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a rare, inherited genetic disorder that causes progressive loss of balance, coordination, and movement control Symptoms Ataxia : Unsteady gait, stumbling, and poor hand-eye coordination. Spasticity and Rigidity: Tight, stiff muscles and slow movement. Dystonia: Uncontrolled muscle tensing that leads to unusual postures or twisting. Tremors: Shaking when attempting fine motor tasks or using the hands. Bulging Eyes: A distinct "staring" or wide-eyed appearance (eyelid retraction). Double Vision: Difficulty moving the eyes normally, slow eye movements, or impaired gaze (ophthalmoplegia). Dysarthria: Slow, slurred, or unclear speech. Dysphagia: Trouble swallowing, which can increase the risk of choking Peripheral Neuropathy : Numbness, tingling, cramps, or burning pain in the hands and feet. Sleep Disorders:...

 Axenfeld-Rieger Syndrome Overview What Is Axenfeld-Rieger Syndrome? Axenfeld-Rieger syndrome (ARS) is a rare genetic condition that affects how your child’s body develops, especially their eyes. It can also affect their teeth and other parts of their body. But this is less common. Healthcare providers usually diagnose ARS when a baby is born, or when they start showing symptoms as infants. Having ARS can affect your child’s vision and lead to other eye issues throughout their life. It’s likely that your child will develop glaucoma at some point if they have ARS. Your child will need regular eye exams as they grow and develop. Visit a healthcare provider if you notice any new symptoms or changes in your child’s eyes or body. Symptoms Healthcare providers group ARS symptoms based on where they affect your child: Ocular symptoms affect your child’s eyes. Systemic symptoms happen in other parts of their body, outside their eyes. Eye symptoms of ARS can include: Thin or underdeveloped ...

Glycogen storage disease type 4 (GSD IV) Overview Glycogen storage disease type 4 (GSD IV), also known as Andersen disease, is a rare inherited metabolic disorder caused by a shortage of an enzyme needed to properly structure glycogen, leading to a toxic buildup of abnormal sugar molecules in the body's tissues. You can read more about the condition on the MedlinePlus Genetics guide. Symptoms Severe hypotonia: Profoundly low muscle tone ("floppy baby" syndrome) in congenital subtypes Cardiomyopathy: Weakened or dilated heart muscle leading to potential heart failure. Respiratory failure: Weakened breathing muscles causing early mortality in severe infant presentations. Neurogenic bladder: Urinary urgency, frequency, or incontinence usually appearing after age 40. Spastic paraparesis: Progressive leg stiffness, weakness, and difficulty walking.Peripheral neuropathy: Numbness, tingling, or reduced sensation in the extremities. Causes GBE1 Gene Mutations: Changes or muta...

Aromatase excess syndrome Overview Aromatase excess syndrome is a rare genetic and endocrine disorder that causes the body to produce too much estrogen A rare condition where genetic changes lead to the overexpression of the aromatase enzyme. Symptoms  Symptoms in Males   Gynecomastia: Enlargement of breast tissue, usually starting in late childhood or adolescence and lasting for life. Advanced Bone Age: Bones grow and mature much faster than normal during childhood. Short Stature: Early growth spurts cause boys to be tall as children, but premature closing of the growth plates results in a shorter final height as an adult. Feminizing Features: High estrogen can cause a higher-pitched voice, sparse facial hair, and mild hypogonadotropic hypogonadism (low testosterone levels). Normal Fertility: Ability to have children is typically unaffected despite hormone shifts. Symptoms in Females Macromastia: Excessive or early breast growth. Menstrual Irregularities: Early onset of...

ADNP Syndrome Overview ADNP syndrome, also called Helsmoortel-Van Der Aa syndrome, is a genetic disorder that affects brain development and can lead to a wide range of challenges. The symptoms can vary greatly from one child to another, but almost all affected children have developmental and intellectual delays, difficulties with motor function, delayed or absent speech and features of autism. The disorder can potentially affect multiple systems of the body including the brain, heart, immune system, gastrointestinal system, endocrine system and musculoskeletal system. Feeding and gastrointestinal issues are common, and many infants have low muscle tone (hypotonia) that can make them appear floppy. These children might also have sensory processing disorders, sleep problems and a high tolerance for pain, making it hard for parents to know when they are hurt. Most of the affected children have distinctive facial features, and many develop early primary tooth eruption and often have a happ...