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Rare diseases

A rare disease affects a small percentage of the population (5 in 10,000 people). They are, for the most part, chronic and degenerative.

They include various disorders and symptoms that vary not only by disease but also from patient to patient.

For a long time, doctors, researchers, and governments were unaware of rare diseases and, until very recently, there was no real research or public health policy on them. There is no cure for most rare diseases, but proper treatment and medical care can improve the quality of life of those affected by them and prolong their life expectancy.

X-linked hypophosphatemia

What is X-linked hypophosphatemia?
X-linked hypophosphatemia (XLH) is a genetic disorder that affects the way the kidneys absorb phosphorus. Phosphorus is an important mineral for bone, tooth, and muscle health. When the kidneys do not absorb enough phosphorus, the blood phosphorus levels decrease.

• Muscle weakness
• Bone pain
• Bone deformities
• Growth retardation
• Dental disorders
• Difficulty breathing
• Fatigue
• Seizures

XLH is a rare disease that affects approximately 1 in 40,000 people in the United States. It is caused by a mutation in the PHEX gene, which is located on the X chromosome. Men are more susceptible to XLH than women, because men have only one X chromosome, while women have two; if the PHEX mutation is present in only one of the X chromosomes, the disease will not manifest, but it can be transmitted to some of the siblings.

Porphyria’s Hepatic Acute

A group of rare underdiagnosed inherited metabolic disorders, due to defects in heme biosynthesis, this molecule is the most important component of a protein called haemoglobin. Heme allows red blood cells to carry oxygen throughout the body.

The clinical manifestations of acute porphyria are nonspecific, for that reason many patients remain undiagnosed or are diagnosed late. The symptomatology usually includes some of the following components:
1. Severe abdominal pain attack is the most common and frequent initial symptom. It is typically generalized and is accompanied by nausea, vomiting, bloating, constipation, or diarrhea. The pain is typically severe, confused with surgical disorders such as appendicitis.
2. Peripheral neuropathy can manifest as pain in multiple areas such as the back, chest, or extremities. Disorders in sensitivity can develop and progress generating tingling sensations and numbness.
3. It involves the autonomic or central nervous system that can cause changes in mental status, seizures, psychosis, insomnia, and anxiety. Manifestations of the autonomic nervous system include tachycardia, hypertension, and bladder dysfunction with urinary retention, incontinence, and painful urination.
Other data may include brown or reddish urine due to excess in porphyrins or porphobilinogen, misdiagnosed as hematuria (blood in the urine).

Hereditary Transthyretin Amyloidosis (ATTR) with polyneuropathy

This inherited disease, usually in adult-onset, is caused by a mutation of the transthyretin protein gene that results in the formation of a protein with abnormal or amyloid configuration. The molecules of this abnormal protein tend to clump together in filamentous structures that accumulate in different organs and cause dysfunction and the expression of disease symptoms.

This form of amyloidosis affects the whole body, especially the peripheral nervous system.
ATTR amyloidosis is suspected in patients with progressive and disabling polyneuropathy, particularly in elderly patients. People with this condition often experience unexplained weight loss of more than 5 kg, heart rhythm disturbances, kidney abnormalities, bilateral carpal tunnel syndrome, autonomic dysfunction (gastric, constipation, chronic diarrhea, erectile dysfunction), and trouble walking.

Spinal muscular atrophy (SMA)

It is a rare, genetic, progressive, and often terminal illness that affects an individual’s ability to walk, eat, and breathe. Approximately one in 10,000 individuals suffers from SMA and it is one of the leading causes of infant death due to genetic factors.

CLN2 (late infantile neuronal ceroid lipofuscinosis type 2)

It is an extremely rare, rapidly progressive pediatric brain disorder, one of the most common forms of neuronal ceroid lipofuscinosis, a group of hereditary disorders collectively known as Batten disease.

MPS IV or Morquio’s disease

A hereditary disease that affects the body’s major organ systems. The disease is a type of mucopolysaccharidosis, which itself is a type of lysosomal storage disorder.

MPS VI (mucopolysaccharidosis VI)

Also known as Maroteaux-Lamy Syndrome, it is a hereditary lysosomal storage disorder caused by a deficiency of N-acetyl galactosamine 4-sulphatase (arylsulphatase B), an enzyme normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAG).

We work hand in hand with Pediatricians, Geneticists, Cardiologists, Orthopedists, Neuro‑pediatricians, Neurologists and other healthcare professionals who strive every day to provide timely diagnoses and offer state-of-the-art treatments to improve the quality of life of people who suffer from any type of these “orphan diseases” in more than 14 countries in Central and South America and the Caribbean.

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