hereditary spastic paraplegia 37

Hereditary Spastic Paraplegia 37 (HSP37) is a rare genetic disorder that affects the nervous system, leading to progressive difficulty walking.

Key Features:

• **Progressive Spastic

Hereditary Spastic Paraplegia (HSP) is a group of rare genetic disorders that primarily affect the nervous system, leading to progressive muscle stiffness (spasticity) in the legs and difficulty walking. The signs and symptoms of HSP can vary from person to person but often include:

• Progressive muscle stiffness (spasticity): This is the primary symptom of HSP, where muscles in the legs become stiff and rigid.
• Difficulty walking: As the condition progresses, people with HSP may experience increasing difficulty walking due to muscle weakness and spasticity.
• Increased reflexes: The arms are often affected later than the legs, but when they are, increased reflexes can be a sign of involvement.
• Vibratory and position sense diminished: In half of patients, there is a decrease in vibratory and position sense, which can affect balance and coordination.
• Urinary symptoms: Some people with HSP may experience urinary urgency or other bladder disturbances.

It's worth noting that the age of onset for HSP can vary widely, from childhood to adulthood. The condition tends to progress slowly over time, but in some cases, it can lead to significant disability.

References:

• [2] Disease definition: A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, ...
• [3] Clinical features: Abnormality of limbs. Ankle clonus · Abnormality of the genitourinary system. Urinary urgency · Abnormality of the nervous system. Babinski ...
• [4] by A Datta — Most patients lost the ability to walk by 60 to 70 years of age.
• [5] Weakness most commonly occurs in the lower limbs, but mild upper limb weakness may also occur.
• [6] This also results in brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances.
• [8] Signs and symptoms of hereditary spastic paraplegias are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking.

Hereditary Spastic Paraplegia (HSP) 37, also known as SPG37, is a rare genetic disorder that affects the nervous system. Diagnostic tests for HSP 37 are crucial in confirming the presence of this condition and ruling out other potential causes of symptoms.

Genetic Testing

Genetic testing is a key diagnostic tool for HSP 37. It involves analyzing DNA samples from individuals suspected to have the condition. The Invitae Hereditary Spastic Paraplegia Comprehensive Panel, mentioned in search result [1], analyzes genes associated with hereditary spastic paraplegia (HSP), including those linked to SPG37.

Clinical Features and Diagnostic Criteria

While genetic testing is essential, clinical features and diagnostic criteria also play a significant role in diagnosing HSP 37. According to search result [2], the condition is characterized by lower-extremity spastic weakness, among other symptoms. A comprehensive evaluation of an individual's medical history, physical examination, and laboratory results can help clinicians diagnose HSP 37.

ICD-9 Codes

The International Classification of Diseases (ICD) codes provide a standardized way to classify diseases, including HSP 37. Search result [3] lists various ICD-9 codes associated with pericardiocentesis, cardiotomy, and other procedures related to the heart and pericardium, which may be relevant in diagnosing SPG37.

Interpreting Genetic Test Results

Genetic testing for HSP 37 can reveal one or more variants in the HSP genes. According to search result [4], these results should be interpreted in the context of the suspected inheritance pattern and other clinical information. A genetic counselor or a healthcare professional with expertise in genetics can help interpret test results.

In summary, diagnostic tests for hereditary spastic paraplegia 37 include genetic testing, clinical evaluation, and consideration of ICD-9 codes related to heart and pericardium procedures. Accurate interpretation of genetic test results is essential in confirming the diagnosis of HSP 37.

Hereditary Spastic Paraplegia (HSP) type 37, also known as Autosomal Dominant Spastic Paraplegia Type 37, is a rare genetic disorder characterized by progressive muscle stiffness and weakness in the lower limbs.

Oral Medications

For HSP type 37, oral medications are often prescribed to manage symptoms. Some of these medications include:

• Baclofen: A muscle relaxant that can help reduce spasticity and improve mobility [1].
• Tizanidine: Another muscle relaxant that can be used to treat spasticity and related symptoms [3].
• Gabapentin/Pregabalin: These anticonvulsants have also been used to manage spasticity in HSP patients [3].

Botulinum Toxin Therapy

In addition to oral medications, botulinum toxin injections may also be considered as a treatment option for HSP type 37. Botulinum toxin can help reduce muscle stiffness and improve mobility by temporarily paralyzing the affected muscles [4].

It's essential to note that while these treatments can help manage symptoms, there is currently no cure available for HSP type 37.

References:

[1] Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia. J Rehabil Med . (2015) 47:147–53. doi: 10.2340/16501977-1909

[3] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity.

[4] by M Bellofatto · 2019 · Cited by 75 — Therapeutic options include physical therapy, oral antispastic drugs (baclofen, progabide, dalfampridine), botulinum toxin therapy, and surgical ...

Differential Diagnosis of Hereditary Spastic Paraplegia (HSP)

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder, and its differential diagnosis involves excluding other conditions that may present with similar symptoms. Here are some conditions that should be considered in the differential diagnosis of HSP:

• Multiple Sclerosis: This autoimmune disease can cause progressive weakness and spasticity in the lower extremities, making it a potential differential diagnosis for HSP [7].
• Structural Abnormalities Involving the Spinal Cord: Conditions such as syringomyelia or spinal cord tumors can cause progressive weakness and spasticity in the lower extremities, similar to HSP [7].
• B12 Deficiency: Vitamin B12 deficiency can cause neurological symptoms including weakness, fatigue, and spasticity in the lower extremities, which may be mistaken for HSP [7].
• Adrenomyeloneuropathy: This rare genetic disorder affects the adrenal glands and spinal cord, causing progressive weakness and spasticity in the lower extremities, similar to HSP [7].
• Spastic Diplegia: This condition presents with nearly identical symptoms to HSP, including progressive weakness and spasticity in the lower extremities, and should be excluded in the differential diagnosis [10].

It's essential to note that a comprehensive diagnostic workup, including clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of alternative differential diagnoses, is necessary for an accurate diagnosis of HSP [6].