Ashkenazi Jewish Genetic Diseases
- Bloom’s Syndrome (BS)
- Canavan Disease
- Cystic Fibrosis (CF)
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism
- Fanconi Anemia Type C
- Gaucher Disease Type 1
- Glycogen Storage Disorder Type 1A (GSD 1A)
- Joubert Syndrome Type 2
- Lipoamide Dehydrogenase Deficiency (E3)
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis Type 4 (ML4)
- Nemaline Myopathy
- Niemann-Pick Disease Type A
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease
- Usher Syndrome Type 3
- Usher Syndrome Type I
- Walker Warburg Syndrome (WWS)
Sephardic/Mizrahi Jewish Genetic Diseases
- Alpha-Thalassemia
- Ataxia Telangiectasia
- Beta-Thalassemia
- Corticosterone Methyloxidase Type II Deficiency
- Costeff Optical Atrophy
- Cystic Fibrosis (CF)
- Familial Creutzfeldt-Jakob Disease
- Familial Mediterranean Fever
- Familial Tumoral Calcinosis (Normophosphatemic Type)
- Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)
- Inclusion Body Myopathy 2
- Limb Girdle Muscular Dystrophy Type 2B
- Metachromatic Leukodystrophy (MLD)
- Polyglandular Deficiency Syndrome
- Pseudocholinesterase Deficiency
- Spinal Muscular Atrophy (SMA)
- Wolman Disease
Limb Girdle Muscular Dystrophy Type 2B
This condition is characterized by slowly progressive weakness and wasting of the pelvic and shoulder girdle muscles (muscles around the shoulders and hips) beginning in late teens or early adulthood. There may be differences in severity, even within the same family. Physical Impairment.
