Patient case (clinical description): A 47-year-old man comes to the clinic for the follow up of his neuromuscular disease. He experienced gradual, progressive weakness of the left upper extremity over the last year.  Over the last few months, he has also noticed weakness in the right upper extremity.  BP is 120/75, PR is 80 and temperature is 37 C. Reflexes are brisk in the upper extremities, and the plantar responses are extensor.  Mild gait ataxia is present. The patient is under treatment of Riluzole 50 mg BID with the diagnosis of ALS.

Patient's own account: I've been suffering from a neuromuscular disease for a while now, and I went to my doctor's office. I'm now a 47-year-old man and over the past year I experienced a progressive and gradual weakness of my left upper extremity, and over the past month, I also noticed a weakness over my right upper extremity. My heart rate was 120/75, and my  PR was 80 with 37°C for temperature. My reflexes are not good in my upper extremities, and I have trouble with my balance. I'm also under Exservan 50 mg for my sclerosis.

Clinical trial: Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing

Eligibility criteria:
-  INCLUSION CRITERIA:

        ALS4 inclusion criteria:

          -  Age 5 or above

          -  Genetic diagnosis of ALS4 (heterozygous mutation in SETX)

          -  Able to communicate well with the investigator, to understand and comply with the
             requirements of the study

          -  Capacity to consent (adults) or assent (pediatric subjects) to the study

        Disease control inclusion criteria:

          -  Age 5 or above

          -  Genetic diagnosis of RNA processing defect mutation (RNaseH1, RNaseH2, recessive
             mutations in SETX)

          -  Able to communicate well with the investigator, to understand and comply with the
             requirements of the study

          -  Capacity to consent (adults) or assent (pediatric subjects) to the study

        Related, unaffected healthy control inclusion criteria:

          -  Age 5 or above

          -  Family history (first, second, or third degree relative) of RNA processing defect
             mutation (RNaseH1, RNaseH2, heterozygous or recessive mutations in SETX)

          -  Able to communicate well with the investigator, to understand and comply with the
             requirements of the study

          -  Capacity to consent (adults) or assent (pediatric subjects) to the study

        Unrelated, healthy control inclusion criteria:

          -  Age 5 or above

          -  Able to communicate well with the investigator, to understand and comply with the
             requirements of the study

          -  Capacity to consent (adults) or assent (pediatric subjects) to the study

        EXCLUSION CRITERIA:

        ALS4 exclusion criteria:

          -  Patients with known claustrophobia, presence of pacemaker, ferromagnetic material in
             their body, or any other condition that would preclude MRI assessments

          -  Pregnancy

          -  Disease control exclusion criteria:

             --Pregnancy

          -  Related, unaffected healthy control exclusion criteria:

               -  Diagnosis of neuromuscular disease or weakness on physical examination

               -  Pregnancy

          -  Unrelated, healthy control exclusion criteria:

               -  Diagnosis of neuromuscular disease or weakness on physical examination

               -  Patients with known claustrophobia, presence of pacemaker, ferromagnetic material
                  in their body, or any other condition that would preclude MRI assessments

          -  Pregnancy
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 5 Years old.


Eligibility (NLI label): Entailment