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Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive axonal neuropathy with neuromyotonia Overview Autosomal recessive axonal neuropathy with neuromyotonia is a rare inherited disorder that damages peripheral nerves, causing muscle weakness and delayed relaxation. Symptoms • Muscle Weakness and Wasting (Atrophy): Affects the lower legs, feet, and hands, often starting in childhood or adolescence. • Gait and Mobility Issues: Leads to an unusual walking style (abnormal gait), foot drop, and frequent falls. • Exercise Intolerance: Muscle weakness becomes much more noticeable during physical exertion. • Joint Deformities (Contractures) : Causes tightening of the tendons in the hands and feet. • Neuromyotonia (Isaac Syndrome): Results in nerve overactivation, causing delayed muscle relaxation after tensing, painful muscle cramps, and muscle stiffness. • Myokymia: Involuntary, rippling, or twitching movements under the skin of the muscles at rest. • Sensory Impairment: Occasionally causes a mild reduction in the abilit...
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Autosomal recessive hypotrichosis

Autosomal recessive hypotrichosis Overview               Autosomal recessive hypotrichosis is a rare genetic condition that begins in infancy and causes sparse, coarse, dry, and tightly curled hair on the scalp and body Symptoms • Sparse scalp hair: Hair on the head is thin from an early age and rarely grows longer than a few inches. • Woolly texture: The hair is typically coarse, dry, and tightly curled. • Lighter color and fragility: Scalp strands may appear lighter than expected, breaking easily. • Sparse body hair: Eyebrows, eyelashes, and other body hair can also be thin or sparse. • Progressive loss: Over time, the hair problems can remain stable or worsen into significant scalp hair loss (alopecia). • Scalp irritation: Some individuals experience redness (erythema), itchiness (pruritus), or minor skin erosions on the scalp. • Bumps around follicles: Small bumps called hyperkeratotic follicular papules may form around hair follicles in ...
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HPV (Human Papillomavirus)

HPV (Human Papillomavirus) Overview What is human papillomavirus (HPV)? Human papillomavirus (HPV) is a common virus that can affect different parts of your body. There are over 100 types of HPV, including strains of HPV that cause warts on your hands, feet and face. About 30 HPV strains can affect your genitals, including your vulva, vagina, cervix, penis and scrotum, as well as your rectum and anus. This includes the type of HPV that causes genital warts. HPV is the most common viral sexually transmitted infection (STI) in the United States. Roughly 14 million people get the infection each year. HPV is so common that most sexually active people who aren’t vaccinated against HPV will become infected at some point in their lives. Most never know they have it. Some strains of HPV are high-risk and can lead to cancers, like cervical, vulvar and vaginal cancers. Early detection (with a Pap smear or HPV screening) and treatment of precancerous cells can usually prevent this from happening....
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Costeff syndrome

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...
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Tyrosine Hydroxylase Deficiency

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...
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

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...
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Spastic Paraplegia Type 49

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...
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